Authors: Alston, CL, Heidler, J, Dibley, MG, Kremer, LS, Taylor, LS, Fratter, C, French, CE, Glasgow, RIC, Feichtinger, RG, Delon, I, Pagnamenta, AT, Dolling, H, Lemonde, H, Aiton, N, Bjørnstad, A, Henneke, L, Gärtner, J, Thiele, H, Tauchmannova, K, Quaghebeur, G, Houstek, J, Sperl, W, Raymond, FL, Prokisch, H, Mayr, JA, McFarland, R, Poulton, J, Ryan, MT, Wittig, I, Henneke, M, Taylor, RW
Source:
Am. J. Hum. Genet. 103, 592-601 (2018)
American Journal of Human Genetics
Subject Terms: ddc:610, Mitochondria, Fibroblasts, Humans, Mitochondrial Diseases, Electron Transport Complex I, Mitochondrial Proteins, Sequence Alignment, Amino Acid Sequence, Phenotype, Genetic Heterogeneity, Mutation, Alleles, Infant, Female, Male, Complex I, Complexome Profiling, Mitochondrial Disease, Ndufa6, Report, complex I, NDUFA6, mitochondrial disease, complexome profiling
File Description: application/octet-stream; Print-Electronic; application/pdf
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http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/47710
Authors: Ortigoza-Escobar JD, Molero M, Arias A, De Oyarzabal-Sanz AL, Darín N, Serrano M, Garcia-Cazorla A, Tondo M, Hernández M, Garcia-Villoria J, Casado M, Gort L, Mayr JA, Rodríguez-Pombo P, Ribes A, Artuch-Iriberri R, Pérez-Dueñas B
Source:
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Subject Terms: thiamine transporter-2 deficiency, biotin thiamine responsive basal ganglia disease, SLC19A3 gene, Leigh syndrome, striatal necrosis, mitochondrial disorders
Access URL:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::258d54d4d80c0f2b483090c9746c39e9
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11485
Authors: Ramadža, Danijela P, Mayr, JA, Sarnavka, Vladimir: Ćuk, Mario, Paležac, Lidija, Fumić, Ksenija, Bilić, Karmen, Malčić, Ivan, Barišić, Nina, Grubić, Marina, Vuković, Jurica, Žarković, Kamelija, Ćorić, Marijana, Sperl, W, Regelsberger, G, Barić, Ivo
Subject Terms: Danon disease, X-linked disorders, LAMP2 gene
Access URL:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::d0f419bf3c178dc1e273e1635dbe0a81
https://www.bib.irb.hr/728495
Authors: Paležac, Lidija, Mayr, JA, Ćuk, Mario, Sarnavka, Vladimir, Ćorić, Marijana, Zekušić, Marija, Bilić, Karmen, Vuković, Jurica, Bogović, Marko, Zimmermann F, Bogović Zach, T, Fumić, Ksenija, Sperl, Wolfgang, Barić, Ivo
Subject Terms: TRMU gene, liver failure, mitochondrial disease
Access URL:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::8748ecbec53848d13980bf55e755c769
https://www.bib.irb.hr/669973
Authors: Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D
Source: Brain: A Journal of Neurology; Jul2006, Vol. 129 Issue 7, p1674-1684, 11p
Authors: Feichtinger, RG, Oláhová, M, Kishita, Y, Garone, C, Kremer, LS, Yagi, M, Uchiumi, T, Jourdain, AA, Thompson, K, D'Souza, AR, Kopajtich, R, Alston, CL, Koch, J, Sperl, W, Mastantuono, E, Strom, TM, Wortmann, SB, Meitinger, T, Pierre, G, Chinnery, PF, Chrzanowska-Lightowlers, ZM, Lightowlers, RN, DiMauro, S, Calvo, SE, Mootha, VK, Moggio, M, Sciacco, M, Comi, GP, Ronchi, D, Murayama, K, Ohtake, A, Rebelo-Guiomar, P, Kohda, M, Kang, D, Mayr, JA, Taylor, RW, Okazaki, Y, Minczuk, M, Prokisch, H
Contributors: Feichtinger R.G., Olahova M., Kishita Y., Garone C., Kremer L.S., Yagi M., Uchiumi T., Jourdain A.A., Thompson K., D'Souza A.R., Kopajtich R., Alston C.L., Koch J., Sperl W., Mastantuono E., Strom T.M., Wortmann S.B., Meitinger T., Pierre G., Chinnery P.F., Chrzanowska-Lightowlers Z.M., Lightowlers R.N., DiMauro S., Calvo S.E., Mootha V.K., Moggio M., Sciacco M., Comi G.P., Ronchi D., Murayama K., Ohtake A., Rebelo-Guiomar P., Kohda M., Kang D., Mayr J.A., Taylor R.W., Okazaki Y., Minczuk M., Prokisch H.
Source:
American Journal of Human Genetics
American journal of human genetics, vol. 101, no. 4, pp. 525-538
Subject Terms: mitochondria, multiple mtDNA deletions, oxidative phosphorylation, lactate, progressive external ophthalmoplegia, PEO, myopathy, MAM33, p32, Article, multiple mtDNA deletion, Adult, Age of Onset, Aged, Allele, Amino Acid Sequence, Animal, Cardiomyopathie, Carrier Protein, Cells, Cultured, Child, Preschool, Cohort Studie, DNA, Mitochondrial, Electron Transport, Embryo, Mammalian, Female, Fibroblast, Human, Infant, Newborn, Male, Mice, Middle Aged, Mitochondrial Disease, Mitochondrial Protein, Pedigree, Protein Conformation, Sequence Homology, Severity of Illness Index, Young Adult, Mutation, Alleles, Animals, Cardiomyopathies/complications, Cardiomyopathies/genetics, Cardiomyopathies/pathology, Carrier Proteins/chemistry, Carrier Proteins/genetics, Carrier Proteins/metabolism, Cohort Studies, Electron Transport/physiology, Embryo, Mammalian/metabolism, Embryo, Mammalian/pathology, Fibroblasts/metabolism, Fibroblasts/pathology, Humans, Mitochondrial Diseases/complications, Mitochondrial Diseases/genetics, Mitochondrial Diseases/pathology, Mitochondrial Proteins/chemistry, Mitochondrial Proteins/genetics, Mitochondrial Proteins/metabolism, Oxidative Phosphorylation
File Description: ELETTRONICO; application/pdf
Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4a2c028854022d24fefd806112db2b6
Authors: Feichtinger RG, Zimmermann F, Mayr JA, Neureiter D, Hauser-Kronberger C, Schilling FH, Jones N, Sperl W, Kofler B, Feichtinger, Rene' G, Zimmermann, Franz, Mayr, Johannes A, Neureiter, Daniel, Hauser-Kronberger, Cornelia, Schilling, Freimut H, Jones, Neil, Sperl, Wolfgang, Kofler, Barbara
Source: BMC Cancer; 2010, Vol. 10, p149-149, 1p
Accede al texto completo Authors: Michele Costanzo, Mary Gonzalez Melo, David Viertl, Johannes A. Mayr, Margherita Ruoppolo, Samuel Rotman, Gilles Allenbach, Olivier Braissant, Marianna Caterino, Diana Ballhausen, René G. Feichtinger, John O. Prior, Andrea Orlando Fontana, Frédéric Barbey
Contributors: Gonzalez Melo, M, Fontana, Ao, Viertl, D, Allenbach, G, Prior, Jo, Rotman, S, Feichtinger, Rg, Mayr, Ja, Costanzo, M, Caterino, M, Ruoppolo, M, Braissant, O, Barbey, F, Ballhausen, D
Subject Terms: Ga EDTA, Glutaric aciduria type I, Organic aciduria, Renal toxicity, Tubulopathy, Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism, medicine.disease, medicine, medicine.medical_specialty, Renal function, Inborn error of metabolism, Mitochondrion, business.industry, business, Toxicity, Internal medicine, Glutaric aciduria, Young adult, Newborn screening
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http://hdl.handle.net/11588/869299
Authors: Margherita Ruoppolo, René G. Feichtinger, Martin Poms, Johannes Häberle, Noémie Remacle, Johannes A. Mayr, Michele Costanzo, Diana Ballhausen, Madalena Barroso, Clothilde Roux, Véronique Rüfenacht, Hong-Phuc Cudré-Cung, Olivier Braissant, Cristina Cudalbu, Marianna Caterino, Søren W Gersting, Mary Gonzalez Melo
Contributors: Gonzalez Melo, M, Remacle, N, Cudré-Cung, Hp, Roux, C, Poms, M, Cudalbu, C, Barroso, M, Gersting, Sw, Feichtinger, Rg, Mayr, Ja, Costanzo, M, Caterino, M, Ruoppolo, M, Rüfenacht, V, Häberle, J, Braissant, O, Ballhausen, D., University of Zurich, Ballhausen, Diana
Subject Terms: Astrogliosi, Cerebral organic aciduria, Glutaric aciduria type I, Hyperammonemia, Lysine degradation, Microglial activation, Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism, Internal medicine, medicine.medical_specialty, medicine, Creatine, chemistry.chemical_compound, chemistry, Inborn error of metabolism, medicine.disease, Glutaric aciduria, Urea cycle, Normal diet, Arginine, Pathophysiology, 610 Medicine & health, 10036 Medical Clinic, 2712 Endocrinology, Diabetes and Metabolism, 1303 Biochemistry, 1312 Molecular Biology, 1311 Genetics, 1310 Endocrinology, Diabetes and Metabolism, astrogliosis, mouse model, lysine metabolism, energy-metabolism, natural-history, pipecolic acid, organic-acids, food-intake, mice, mutations
File Description: POMMA-The_first_knock_in_rat_model_for_glutaric.pdf - application/pdf
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http://hdl.handle.net/11588/852147
Authors: El-Gazzar A; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria., Voraberger B; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria., Rauch F; Shriners Hospital for Children-Canada, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada., Mairhofer M; Department of Medical Engineering and Applied Social Sciences, University of Applied Sciences Upper Austria, Linz, Austria., Schmidt K; Centre for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria., Guillemyn B; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium., Mitulović G; Clinical Department of Laboratory Medicine Proteomics Core Facility, Medical University Vienna, Vienna, Austria., Reiterer V; Institute of Pathophysiology, Medical University of Innsbruck, Innsbruck, Austria., Haun M; Institute of Pathophysiology, Medical University of Innsbruck, Innsbruck, Austria., Mayr MM; Institute of Pathophysiology, Medical University of Innsbruck, Innsbruck, Austria., Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria., Kimeswenger S; Department of Dermatology, Johannes Kepler University Linz, Austria., Drews O; Biomedical Mass Spectrometry, Center for Medical Research, Johannes Kepler University, Linz, Austria., Saraff V; Department of Endocrinology and Diabetes, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.; Institute of Applied Health Research, University of Birmingham, Birmingham, UK., Shaw N; Department of Endocrinology and Diabetes, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.; The Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Fratzl-Zelman N; 1st Medical Department Hanusch Hospital, Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, Vienna, Austria.; Vienna Bone and Growth Center, Vienna, Austria., Symoens S; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium., Farhan H; Institute of Pathophysiology, Medical University of Innsbruck, Innsbruck, Austria., Högler W; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.; Department of Endocrinology and Diabetes, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.; The Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK.
Source: EMBO molecular medicine [EMBO Mol Med] 2023 Apr 11; Vol. 15 (4), pp. e16834. Date of Electronic Publication: 2023 Mar 14.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE
Authors: Arribas-Carreira L; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, CBM-CSIC, Departamento de Biología Molecular, Institute for Molecular Biology-IUBM, Universidad Autónoma Madrid, CIBERER, IDIPAZ, 28049 Madrid, Spain., Dallabona C; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy., Swanson MA; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA., Farris J; Boler-Parseghian Center for Rare and Neglected Disease, and Department of Biological Sciences, University of Notre Dame, Notre Dame, IN, USA.; Department of Biology, Saginaw Valley State University, University Center, MI, USA., Østergaard E; Centre for Inherited Metabolic Diseases, Departments of Clinical Genetics and Pediatrics, Rigshospitalet - Copenhagen University Hospital, Copenhagen, Denmark., Tsiakas K; Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Hempel M; Institute of Human Genetics, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Aquaviva-Bourdain C; Service Biochimie et Biologie Moléculaire, UM Pathologies Héréditaires du Métabolisme et du Globule Rouge, Centre de Biologie Est, CHU de Lyon, Lyon, France., Koutsoukos S; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA., Stence NV; Department of Radiology, University of Colorado, Aurora, CO, USA., Magistrati M; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy., Spector EB; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.; Molecular Genetics Lab, Precision DX, Children's Hospital Colorado, Aurora, CO, USA., Kronquist K; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.; Molecular Genetics Lab, Precision DX, Children's Hospital Colorado, Aurora, CO, USA., Christensen M; Centre for Inherited Metabolic Diseases, Departments of Clinical Genetics and Pediatrics, Rigshospitalet - Copenhagen University Hospital, Copenhagen, Denmark., Karstensen HG; Centre for Inherited Metabolic Diseases, Departments of Clinical Genetics and Pediatrics, Rigshospitalet - Copenhagen University Hospital, Copenhagen, Denmark., Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria., Achleitner MT; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria., Lawrence Merritt Ii J; Department of Pediatrics, University of Washington, Seattle, WA, USA., Pérez B; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, CBM-CSIC, Departamento de Biología Molecular, Institute for Molecular Biology-IUBM, Universidad Autónoma Madrid, CIBERER, IDIPAZ, 28049 Madrid, Spain., Ugarte M; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, CBM-CSIC, Departamento de Biología Molecular, Institute for Molecular Biology-IUBM, Universidad Autónoma Madrid, CIBERER, IDIPAZ, 28049 Madrid, Spain., Grünewald S; Department of Metabolic Medicine, Great Ormond Street Hospital, London, UK., Riela AR; Texas Child Neurology, Plano, TX, USA., Julve N; Department of Pediatrics, IMED Valencia Hospital, Valencia, Spain., Arnoux JB; Centre de Reference des Maladies Hereditaires, Necker Enfants Malades, Paris, France., Haldar K; Boler-Parseghian Center for Rare and Neglected Disease, and Department of Biological Sciences, University of Notre Dame, Notre Dame, IN, USA., Donnini C; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy., Santer R; Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Lund AM; Centre for Inherited Metabolic Diseases, Departments of Clinical Genetics and Pediatrics, Rigshospitalet - Copenhagen University Hospital, Copenhagen, Denmark., Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria., Rodriguez-Pombo P; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, CBM-CSIC, Departamento de Biología Molecular, Institute for Molecular Biology-IUBM, Universidad Autónoma Madrid, CIBERER, IDIPAZ, 28049 Madrid, Spain., Van Hove JLK; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.
Source: Human molecular genetics [Hum Mol Genet] 2023 Mar 06; Vol. 32 (6), pp. 917-933.
Publication Type: Journal Article
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
MeSH Terms: Hyperglycinemia, Nonketotic*/genetics , Hyperglycinemia, Nonketotic*/pathology, Humans ; Proteins/genetics ; Mutation ; Exons/genetics ; Glycine/genetics ; Glycine/metabolism
Authors: Bader I; Clinical Genetics Unit, University Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020, Salzburg, Austria. ingrid.bader@med.uni-tuebingen.de.; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020, Salzburg, Austria. ingrid.bader@med.uni-tuebingen.de.; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstr. 7, 72076, Tübingen, Germany. ingrid.bader@med.uni-tuebingen.de., Freilinger M; Universitätsklinik Für Kinder- Und Jugendheilkunde, Medical University of Vienna, 1090, Vienna, Austria., Landauer F; University Clinic of Orthopaedic and Trauma Surgery, SALK and Paracelsus Medical University Salzburg, 5020, Salzburg, Austria., Waldmüller S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstr. 7, 72076, Tübingen, Germany., Mueller-Felber W; Dr. V. Hauner Children's Hospital, Ludwig-Maximilian University of Munich, Munich, Germany., Rauscher C; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020, Salzburg, Austria., Sperl W; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020, Salzburg, Austria., Bittner RE; Neuromuscular Research Department, Center of Anatomy and Cell Biology, Medical University of Vienna, 1090, Vienna, Austria., Schmidt WM; Neuromuscular Research Department, Center of Anatomy and Cell Biology, Medical University of Vienna, 1090, Vienna, Austria., Mayr JA; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020, Salzburg, Austria.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jul 19; Vol. 17 (1), pp. 279. Date of Electronic Publication: 2022 Jul 19.
Publication Type: Journal Article; Review; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Authors: Riederer M; Institute of Biomedical Science, University of Applied Sciences JOANNEUM, Graz, Austria., Wallner M; Institute of Dietetics and Nutrition, Health Perception Lab, University of Applied Sciences JOANNEUM, Graz, Austria., Schweighofer N; Division of Endocrinology and Diabetology, Medical University Graz, Graz, Austria., Fuchs-Neuhold B; Institute of Dietetics and Nutrition, Health Perception Lab, University of Applied Sciences JOANNEUM, Graz, Austria., Rath A; Institute of Midwifery, University of Applied Sciences JOANNEUM, Graz, Austria., Berghold A; Institute for Medical Informatics, Statistics and Documentation, Medical University Graz, Graz, Austria., Eberhard K; Core Facility Computational Bioanalytics, Center for Medical Research (ZMF), Medical University of Graz, Graz, Austria., Groselj-Strele A; Core Facility Computational Bioanalytics, Center for Medical Research (ZMF), Medical University of Graz, Graz, Austria., Staubmann W; Institute of Dietetics and Nutrition, Health Perception Lab, University of Applied Sciences JOANNEUM, Graz, Austria., Peterseil M; Institute of Dietetics and Nutrition, Health Perception Lab, University of Applied Sciences JOANNEUM, Graz, Austria., Waldner I; Institute of Midwifery, University of Applied Sciences JOANNEUM, Graz, Austria., Mayr JA; University Clinic for Pediatrics and Adolescent Medicine Salzburg, Salzburg, Austria., Rothe M; Lipidomix, Campus Berlin Buch, Berlin, Germany., Holasek S; Department of Pathophysiology, Medical University Graz, Graz, Austria., Maunz S; Institute of Dietetics and Nutrition, Health Perception Lab, University of Applied Sciences JOANNEUM, Graz, Austria., Pail E; Institute of Dietetics and Nutrition, Health Perception Lab, University of Applied Sciences JOANNEUM, Graz, Austria., van der Kleyn M; Institute of Midwifery, University of Applied Sciences JOANNEUM, Graz, Austria.
Source: Archives of physiology and biochemistry [Arch Physiol Biochem] 2023 Jun; Vol. 129 (3), pp. 563-574. Date of Electronic Publication: 2020 Dec 07.
Publication Type: Journal Article
Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9510153 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-4160 (Electronic) Linking ISSN: 13813455 NLM ISO Abbreviation: Arch Physiol Biochem Subsets: MEDLINE
MeSH Terms: Oxylipins* , Body Composition*, Female ; Pregnancy ; Humans ; Infant ; Amino Acids ; Child Development ; Obesity ; Amines ; Hydroxy Acids ; Body Mass Index
Authors: Riederer M; Institute of Biomedical Science, University of Applied Sciences JOANNEUM, Graz, Austria. monika.riederer@fh-joanneum.at., Schweighofer N; Division of Endocrinology and Diabetology, Medical University Graz, Graz, Austria., Trajanoski S; Core Facility Computational Bioanalytics, Center for Medical Research (ZMF), Medical University of Graz, Graz, Austria., Stelzer C; Institute of Biomedical Science, University of Applied Sciences JOANNEUM, Graz, Austria., Zehentner M; Institute of Biomedical Science, University of Applied Sciences JOANNEUM, Graz, Austria., Fuchs-Neuhold B; Institute of Dietetics and Nutrition, Health Perception Lab, University of Applied Sciences JOANNEUM, Graz, Austria., Kashofer K; Diagnostic and Research Institute of Pathology, Medical University of Graz, Auenbruggerpl. 2, 8036, Graz, Austria., Mayr JA; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria., Hörmann-Wallner M; Institute of Dietetics and Nutrition, Health Perception Lab, University of Applied Sciences JOANNEUM, Graz, Austria., Holasek S; Department of Pathophysiology, Medical University Graz, Graz, Austria., van der Kleyn M; Institute of Midwifery, University of Applied Sciences JOANNEUM, Graz, Austria.
Source: Amino acids [Amino Acids] 2022 Mar; Vol. 54 (3), pp. 365-383. Date of Electronic Publication: 2021 Sep 03.
Publication Type: Journal Article
Journal Info: Publisher: Springer-Verlag Country of Publication: Austria NLM ID: 9200312 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1438-2199 (Electronic) Linking ISSN: 09394451 NLM ISO Abbreviation: Amino Acids Subsets: MEDLINE
Authors: Oswald SL; University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria., Steinbrücker K; University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria., Achleitner MT; University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria., Göschl E; Moedling Hospital, Moedling, Austria., Bittner RE; Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria., Schmidt WM; Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria., Tiefenthaler E; University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria., Hammerl E; University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria., Eisl A; University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria., Mayr D; University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria., Mayr JA; University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria., Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria.; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
Source: Neuropediatrics [Neuropediatrics] 2023 Feb 20. Date of Electronic Publication: 2023 Feb 20.
Publication Type: Journal Article
Journal Info: Publisher: Hippokrates Verlag Country of Publication: Germany NLM ID: 8101187 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-1899 (Electronic) Linking ISSN: 0174304X NLM ISO Abbreviation: Neuropediatrics Subsets: MEDLINE
Authors: Astner-Rohracher A; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Christian Doppler University Hospital, Centre for Cognitive Neuroscience, Paracelsus Medical University, Salzburg, Austria.; Neuroscience Institute, Christian Doppler University Hospital, Centre for Cognitive Neuroscience Paracelsus Medical University Hospital, Salzburg, Austria., Mauritz M; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Christian Doppler University Hospital, Centre for Cognitive Neuroscience, Paracelsus Medical University, Salzburg, Austria.; Neuroscience Institute, Christian Doppler University Hospital, Centre for Cognitive Neuroscience Paracelsus Medical University Hospital, Salzburg, Austria., Leitinger M; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Christian Doppler University Hospital, Centre for Cognitive Neuroscience, Paracelsus Medical University, Salzburg, Austria.; Neuroscience Institute, Christian Doppler University Hospital, Centre for Cognitive Neuroscience Paracelsus Medical University Hospital, Salzburg, Austria., Rossini F; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Christian Doppler University Hospital, Centre for Cognitive Neuroscience, Paracelsus Medical University, Salzburg, Austria.; Neuroscience Institute, Christian Doppler University Hospital, Centre for Cognitive Neuroscience Paracelsus Medical University Hospital, Salzburg, Austria., Kalss G; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Christian Doppler University Hospital, Centre for Cognitive Neuroscience, Paracelsus Medical University, Salzburg, Austria.; Neuroscience Institute, Christian Doppler University Hospital, Centre for Cognitive Neuroscience Paracelsus Medical University Hospital, Salzburg, Austria., Neuray C; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Christian Doppler University Hospital, Centre for Cognitive Neuroscience, Paracelsus Medical University, Salzburg, Austria., Retter E; Neurology Practice, Tamsweg, Austria., Wortmann SB; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Radboudumc, Nijmegen, Netherlands., Achleitner MT; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Mayr JA; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Trinka E; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Christian Doppler University Hospital, Centre for Cognitive Neuroscience, Paracelsus Medical University, Salzburg, Austria.; Neuroscience Institute, Christian Doppler University Hospital, Centre for Cognitive Neuroscience Paracelsus Medical University Hospital, Salzburg, Austria.; Karl Landsteiner Institute for Neurorehabilitation and Space Neurology, Salzburg, Austria.; Department of Public Health, Health Services Research and Health Technology Assessment, UMIT-University for Health Sciences, Medical Informatics and Technology, Hall in Tirol, Austria.
Source: Frontiers in neurology [Front Neurol] 2023 Jan 11; Vol. 13, pp. 1063733. Date of Electronic Publication: 2023 Jan 11 (Print Publication: 2022).
Publication Type: Case Reports
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE
Authors: Roesch S; Department of Otorhinolaryngology, Head and Neck Surgery, Paracelsus Medical University, Salzburg, Austria., O'Sullivan A; Department of Otorhinolaryngology, Head and Neck Surgery, Paracelsus Medical University, Salzburg, Austria.; Insitute of Pathology, Paracelsus Medical University, Salzburg, Austria., Zimmermann G; Team Biostatistics and Big Medical Data, IDA Lab Salzburg, Paracelsus Medical University, Salzburg, Austria.; Department of Research and Innovation, Paracelsus Medical University, Salzburg, Austria., Mair A; Department of Otorhinolaryngology, Head and Neck Surgery, Paracelsus Medical University, Salzburg, Austria., Lipuš C; PMU University Library, Paracelsus Medical University, Salzburg, Austria., Mayr JA; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Wortmann SB; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands., Rasp G; Department of Otorhinolaryngology, Head and Neck Surgery, Paracelsus Medical University, Salzburg, Austria.
Source: The Laryngoscope [Laryngoscope] 2022 Dec; Vol. 132 (12), pp. 2459-2472. Date of Electronic Publication: 2022 Feb 21.
Publication Type: Journal Article; Review; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 8607378 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-4995 (Electronic) Linking ISSN: 0023852X NLM ISO Abbreviation: Laryngoscope Subsets: MEDLINE
MeSH Terms: Hearing Loss*/diagnosis , Deafness* , Hearing Loss, Sensorineural* , Mitochondrial Diseases*/complications, Humans ; Systematic Reviews as Topic
Authors: Schneider AM; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria., Özsoy M; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria., Zimmermann FA; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria., Brunner SM; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria., Feichtinger RG; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria., Mayr JA; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria., Kofler B; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria., Neureiter D; Department of Pathology, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria., Klieser E; Department of Pathology, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria., Aigner E; First Department of Medicine, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria., Schütz S; Department of Mathematics, Paris Lodron University, Salzburg, Austria., Stummer N; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria., Sperl W; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria., Weghuber D; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.
Source: Oxidative medicine and cellular longevity [Oxid Med Cell Longev] 2022 Jan 06; Vol. 2022, pp. 9151169. Date of Electronic Publication: 2022 Jan 06 (Print Publication: 2022).
Publication Type: Journal Article
Journal Info: Publisher: Hindawi Pub. Corp Country of Publication: United States NLM ID: 101479826 Publication Model: eCollection Cited Medium: Internet ISSN: 1942-0994 (Electronic) Linking ISSN: 19420994 NLM ISO Abbreviation: Oxid Med Cell Longev Subsets: MEDLINE
Authors: Vidali S; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University Salzburg, Salzburg, Austria., Gerlini R; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Thompson K; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Urquhart JE; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Meisterknecht J; Functional Proteomics, Institute for Cardiovascular Physiology, Faculty of Medicine, Goethe University Frankfurt, Frankfurt, Germany., Aguilar-Pimentel JA; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Amarie OV; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Becker L; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Breen C; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Calzada-Wack J; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Chhabra NF; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Cho YL; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., da Silva-Buttkus P; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Feichtinger RG; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University Salzburg, Salzburg, Austria., Gampe K; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Garrett L; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Hoefig KP; Research Unit Molecular Immune Regulation, Helmholtz Zentrum München, German Research Center for Environmental Health, Munich, Germany., Hölter SM; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Chair of Developmental Genetics, TUM School of Life Sciences, Technische Universität München, Freising, Germany., Jameson E; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Klein-Rodewald T; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Leuchtenberger S; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Marschall S; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Mayer-Kuckuk P; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Miller G; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Oestereicher MA; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Pfannes K; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Rathkolb B; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Institute of Molecular Animal Breeding and Biotechnology, Ludwig-Maximilians University Munich, Munich, Germany., Rozman J; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Sanders C; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Spielmann N; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Stoeger C; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Szibor M; Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.; Department of Cardiothoracic Surgery, Jena University Hospital, Jena, Germany., Treise I; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Walter JH; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Wurst W; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Chair of Developmental Genetics, TUM School of Life Sciences, Technische Universität München, Freising, Germany.; Deutsches Institut für Neurodegenerative Erkrankungen (DZNE) Site Munich, Munich, Germany., Mayr JA; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University Salzburg, Salzburg, Austria., Fuchs H; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Gärtner U; Institute for Anatomy and Cell Biology, Justus-Liebig-University of Giessen, Giessen, Germany., Wittig I; Functional Proteomics, Institute for Cardiovascular Physiology, Faculty of Medicine, Goethe University Frankfurt, Frankfurt, Germany.; German Center for Cardiovascular Research (DZHK), Partner site RheinMain, Frankfurt, Germany., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Newman WG; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK., Prokisch H; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Gailus-Durner V; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Hrabě de Angelis M; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, Freising, Germany.
Source: EMBO molecular medicine [EMBO Mol Med] 2021 Dec 07; Vol. 13 (12), pp. e14397. Date of Electronic Publication: 2021 Nov 08.
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE
Authors: Hüllen A; Centre for Child and Adolescent Medicine, Department 1, University of Heidelberg, Heidelberg, Germany., Falkenstein K; Centre for Child and Adolescent Medicine, Department 1, University of Heidelberg, Heidelberg, Germany., Weigel C; Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany., Huidekoper H; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Naumann-Bartsch N; Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany., Spenger J; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria., Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria., Schaefers J; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Frenz S; Department of Pediatrics, Dr von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Kotlarz D; Department of Pediatrics, Dr von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Momen T; Department of Asthma, Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran., Khoshnevisan R; Department of Immunology, Medical Faculty, Isfahan University of Medical Sciences, Isfahan, Iran.; Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran., Riedhammer KM; Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Department of Nephrology, Klinikum Rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Santer R; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Rennings A; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Nijmegen, The Netherlands., Lefeber DJ; Department of Neurology, Translational Metabolic Laboratory, Donders Center for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria., Thiel C; Centre for Child and Adolescent Medicine, Department 1, University of Heidelberg, Heidelberg, Germany., Wortmann SB; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Nijmegen, The Netherlands.
Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Nov; Vol. 44 (6), pp. 1441-1452. Date of Electronic Publication: 2021 Sep 15.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE