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Pediatrics, ISSN 0031-4005, 06/2003, Volume 111, Issue 6, pp. 1399 - 1406
Journal Article
2008, 1. Aufl., ISBN 3540766979, 882
This manual describes laboratory methodology for diagnosing inborn errors of metabolism. Each chapter is sufficiently detailed so as to be self-contained, thus... 
Metabolic diseases | Biochemistry, general | Human Genetics | Medicine | Pediatrics | Medicine & Public Health | Metabolic Diseases | Laboratory Medicine | Metabolism, Inborn errors of | Biochemical genetics
eBook
2006, 3rd ed., ISBN 0521614996, xx, 338
This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The... 
Metabolism, Inborn errors of | Diagnosis, Differential | genetics | therapy | Metabolism, Inborn Errors | diagnosis | Laboratory Techniques and Procedures | Metabolic disorders in children
Book
Journal of inherited metabolic disease, ISSN 0141-8955, 3/2015, Volume 38, Issue 2, pp. 371 - 372
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Carnitine O-Palmitoyltransferase - genetics | Lipid Metabolism, Inborn Errors - genetics | Lipolysis - drug effects | Muscular Diseases - enzymology | Humans | Lipid Metabolism, Inborn Errors - drug therapy | Metabolism, Inborn Errors - enzymology | Lipid Metabolism, Inborn Errors - enzymology | Heart Rate - drug effects | Muscular Diseases - physiopathology | Muscular Diseases - drug therapy | Carnitine O-Palmitoyltransferase - deficiency | Fatty Acids - metabolism | Mitochondrial Diseases - genetics | Bezafibrate - therapeutic use | Mitochondrial Diseases - drug therapy | Oxidation-Reduction | Lipid Metabolism, Inborn Errors - diagnosis | Acyl-CoA Dehydrogenase, Long-Chain - genetics | Treatment Outcome | Bezafibrate - adverse effects | Metabolism, Inborn Errors - genetics | Mitochondrial Diseases - enzymology | Muscular Diseases - diagnosis | Lipid Metabolism, Inborn Errors - physiopathology | Metabolism, Inborn Errors - diagnosis | Metabolism, Inborn Errors - drug therapy | Muscular Diseases - genetics | Mitochondrial Diseases - physiopathology | Metabolism, Inborn Errors - physiopathology | Mitochondrial Diseases - diagnosis | Acyl-CoA Dehydrogenase, Long-Chain - deficiency | Fatty acids | Index Medicus | Life Sciences
Journal Article
Movement disorders, ISSN 1531-8257, 12/2018, Volume 34, Issue 5, pp. 598 - 613
ABSTRACT There are several hundred single‐gene disorders that we classify as inborn errors of metabolism. Inborn errors of metabolism are often rare and highly... 
inborn errors of metabolism | treatment | movement disorders | neurotransmitter disorders | neurogenetics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Amino Acid Metabolism, Inborn Errors - complications | Niemann-Pick Disease, Type C - therapy | Hepatolenticular Degeneration - therapy | Monosaccharide Transport Proteins - deficiency | Amino Acid Metabolism, Inborn Errors - physiopathology | Humans | Folic Acid Deficiency - therapy | Hepatolenticular Degeneration - physiopathology | Vitamin E Deficiency - therapy | Dystonic Disorders - complications | Brain Diseases, Metabolic - diagnosis | Vitamin E Deficiency - diagnosis | Xanthomatosis, Cerebrotendinous - diagnosis | Basal Ganglia Diseases - diagnosis | Carbohydrate Metabolism, Inborn Errors - therapy | Dystonia - etiology | Carbohydrate Metabolism, Inborn Errors - diagnosis | Parkinsonian Disorders - physiopathology | Chorea - physiopathology | Dystonia - physiopathology | Metabolic Diseases - diagnosis | Ataxia - diagnosis | Carbohydrate Metabolism, Inborn Errors - physiopathology | Metabolism, Inborn Errors - diagnosis | Folic Acid Deficiency - complications | Movement Disorders - physiopathology | Brain Diseases, Metabolic - physiopathology | Basal Ganglia Diseases - therapy | Ataxia - complications | Muscle Spasticity - physiopathology | Xanthomatosis, Cerebrotendinous - complications | Metabolic Diseases - complications | Metabolism, Inborn Errors - complications | Metabolism, Inborn Errors - physiopathology | Brain Diseases, Metabolic - complications | Glutaryl-CoA Dehydrogenase - deficiency | Carbohydrate Metabolism, Inborn Errors - complications | Ataxia - etiology | Hepatolenticular Degeneration - diagnosis | Metabolism, Inborn Errors - therapy | Niemann-Pick Disease, Type C - physiopathology | Parkinsonian Disorders - etiology | Amino Acid Metabolism, Inborn Errors - diagnosis | Brain Diseases, Metabolic - therapy | Xanthomatosis, Cerebrotendinous - therapy | Metabolic Diseases - therapy | Metabolic Diseases - physiopathology | Myoclonus - etiology | Vitamin E Deficiency - complications | Niemann-Pick Disease, Type C - diagnosis | Dystonic Disorders - physiopathology | Dystonic Disorders - therapy | Hepatolenticular Degeneration - complications | Vitamin E Deficiency - physiopathology | Ataxia - physiopathology | Ataxia - therapy | Chorea - etiology | Amino Acid Metabolism, Inborn Errors - therapy | Basal Ganglia Diseases - complications | Folic Acid Deficiency - physiopathology | Myoclonus - physiopathology | Muscle Spasticity - etiology | Dystonic Disorders - diagnosis | Basal Ganglia Diseases - physiopathology | Movement Disorders - etiology | Xanthomatosis, Cerebrotendinous - physiopathology | Folic Acid Deficiency - diagnosis | Niemann-Pick Disease, Type C - complications | Dystonic Disorders - etiology | Metabolism, Inborn errors of | Education | Mortality | Finance | Physiological aspects | Creatine | Movement disorders | Energy metabolism | Inborn errors of metabolism | Lysosomal storage diseases | Metabolism | Autophagy | Morbidity | Quality of life | Phenomenology | Psychiatrists | Differential diagnosis | Children | Phagocytosis | Index Medicus
Journal Article
2010, ISBN 0521517818, xiii, 223
"This book summarizes the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. These agents are... 
Metabolism, Inborn errors of | Orphan Drug Production | Chemotherapy | Genetic disorders | drug therapy | Small Molecule Libraries | Genetic Diseases, Inborn | Rare Diseases | Gene therapy | therapeutic use | Handbooks, manuals, etc
Book
2007, ISBN 9780387709093, xix, 562
This book describes the nature of the lysosomal dysfunction and diseases as well as potential future treatments and therapies. This is an invaluable resource... 
Lysosomal storage diseases | Metabolism, Inborn errors of | Life Sciences | Human Genetics | Biochemistry, general | Biomedical and Life Sciences | Epidemiology | Cell Biology
Book
Pediatric Nephrology, ISSN 0931-041X, 3/2010, Volume 25, Issue 3, pp. 415 - 424
Journal Article
Advances in metabolic disorders, ISSN 0065-2903
Vol. 7 includes the Proceedings of a Symposium on Insulin, held at the City of Hope Medical Center, Duarte, California, 1972. 
yearbooks | Periodicals | Metabolism | Metabolism, Disorders of | Metabolism, Inborn Errors
Journal
Pediatrics (Evanston), ISSN 1098-4275, 06/2006, Volume 118, Issue 2, pp. e460 - e470
Journal Article
Clinical journal of the American Society of Nephrology, ISSN 1555-905X, 09/2012, Volume 7, Issue 9, pp. 1521 - 1527
Journal Article