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Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 08/2015, Volume 10, Issue 1, p. 104
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2010, Volume 362, Issue 3, pp. 206 - 216
Journal Article
PLoS Genetics, ISSN 1553-7390, 04/2011, Volume 7, Issue 4, p. e1002050
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2015, Volume 167, Issue 12, pp. 2869 - 2892
The purpose of the nosology is to serve as a "master" list of the genetic disorders of the skeleton to facilitate diagnosis and to help delineate variant or... 
nosology | molecular basis of disease | dwarfism | skeletal dysplasias | Dwarfism | Nosology | Molecular basis of disease | Skeletal dysplasias | NOMENCLATURE | GENETICS & HEREDITY | CONSTITUTIONAL DISORDERS | Bone Diseases - classification | Bone Diseases - genetics | Humans | Genetic Diseases, Inborn - classification
Journal Article
by Anderson, Beverley H and Kasher, Paul R and Mayer, Josephine and Szynkiewicz, Marcin and Jenkinson, Emma M and Bhaskar, Sanjeev S and Urquhart, Jill E and Daly, Sarah B and Dickerson, Jonathan E and O'Sullivan, James and Leibundgut, Elisabeth Oppliger and Muter, Joanne and Abdel-Salem, Ghada M. H and Babul-Hirji, Riyana and Baxter, Peter and Berger, Anea and Bonafé, Luisa and Brunstom-Hernandez, Janice E and Buckard, Johannes A and Chitayat, David and Chong, Wui K and Cordelli, Duccio M and Ferreira, Patrick and Fluss, Joel and Forrest, Ewan H and Franzoni, Emilio and Garone, Caterina and Hammans, Simon R and Houge, Gunnar and Hughes, Imelda and Jacquemont, Sebastien and Jeannet, Pierre-Yves and Jefferson, Rosalind J and Kumar, Ram and Kutschke, Georg and Lundberg, Staffan and Lourenço, Charles M and Mehta, Ramesh and Naidu, Sakkubai and Nischal, Ken K and Nunes, Luís and Ounap, Katrin and Philippart, Michel and Prabhakar, Prab and Risen, Sarah R and Schiffmann, Raphael and Soh, Calvin and Stephenson, John B. P and Stewart, Helen and Stone, Jon and Tolmie, John L and van der Knaap, Marjo S and Vieira, Jose P and Vilain, Catheline N and Wakeling, Emma L and Wermenbol, Vanessa and Whitney, Anea and Lovell, Simon C and Meyer, Stefan and Livingston, John H and Baerlocher, Gabriela M and Black, Graeme C. M and Rice, Gillian I and Crow, Yanick J and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för kvinnors och barns hälsa and Uppsala universitet
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 3, pp. 338 - 342
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2011, Volume 43, Issue 2, pp. 132 - 137
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2013, Volume 8, Issue 1, pp. e53735 - e53735
Glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency) is an inborn error of metabolism that usually manifests in infancy by an acute encephalopathic... 
CREATINE | DIAGNOSIS | TRANSPORT | MANAGEMENT | ACIDS | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | COA DEHYDROGENASE-DEFICIENCY | SECONDARY | NEURODEGENERATION | TOXICITY | Brain Diseases, Metabolic - pathology | Glutaryl-CoA Dehydrogenase - metabolism | Neurons - pathology | Oligodendroglia - metabolism | Astrocytes - pathology | Brain - enzymology | Brain - metabolism | Amino Acid Metabolism, Inborn Errors - metabolism | Oligodendroglia - drug effects | Neurons - metabolism | Amino Acid Metabolism, Inborn Errors - pathology | Cell Death - drug effects | Culture Media - chemistry | Neurons - drug effects | Disease Models, Animal | Astrocytes - drug effects | Rats | Brain Diseases, Metabolic - metabolism | Rats, Sprague-Dawley | Brain - drug effects | Oligodendroglia - pathology | Animals | Quaternary Ammonium Compounds - metabolism | Brain - pathology | Glutarates - pharmacology | Astrocytes - metabolism | Glutaryl-CoA Dehydrogenase - deficiency | Amino acids | Brain damage | Biochemistry | Metabolites | Cell death | Brain | Cell culture | Pediatrics | Ammonium | Neurosciences | Inborn errors of metabolism | Dehydrogenases | Disease | Neurobiology | Aciduria | Nervous system | Damage prevention | Accumulation | Neurotoxicity | Developmental stages | Rodents | Biocompatibility | Supplementation | Glutamate-ammonia ligase | Urine | Astrocytes | Legal medicine | Mortality | Dietary supplements | Glutaryl-CoA dehydrogenase | Cultures | Exposure | Medical screening | Metabolism | Patients | Carnitine | Brain research | Hospitals | Lysine | In vivo methods and tests | Lactic acid | Three dimensional models | Brain injury | Metabolic disorders | Glutamine | Apoptosis | Index Medicus
Journal Article
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2009, Volume 84, Issue 6, pp. 760 - 770
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 12/2011, Volume 104, Issue 4, pp. 425 - 437
Journal Article