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2015, JIMD Reports, ISBN 3662466996
Web Resource
2014, JIMD Reports, ISBN 3662445786, Volume 17
Web Resource
The American Journal of Human Genetics, ISSN 0002-9297, 12/2011, Volume 89, Issue 6, pp. 792 - 797
Lipoic acid is an essential prosthetic group of four mitochondrial enzymes involved in the oxidative decarboxylation of pyruvate, α-ketoglutarate, and branched... 
SYNTHASE | RESPIRATORY-CHAIN | PROTEIN | GENE | CLONING | BIOSYNTHESIS | ENZYMES | ESCHERICHIA-COLI | GENETICS & HEREDITY | MUTATIONS | PYRUVATE-DEHYDROGENASE COMPLEX | Mitochondria - enzymology | Acidosis, Lactic - genetics | Glycine - urine | Humans | Molecular Sequence Data | Male | Mutation, Missense | Pyruvate Dehydrogenase Complex - genetics | Base Sequence | Fatal Outcome | Epilepsy - genetics | Infant, Newborn, Diseases - genetics | Escherichia coli - growth & development | Energy Metabolism - genetics | Abnormalities, Multiple - genetics | Infant, Newborn | Fibroblasts - metabolism | Epilepsy - enzymology | Pyruvate Dehydrogenase Complex - metabolism | Amino Acid Sequence | Glycine - blood | Gene Expression | Muscle, Skeletal - enzymology | Muscle Hypotonia - genetics | Infant, Newborn, Diseases - diagnosis | Mitochondria - metabolism | Sequence Analysis, DNA | Chromosomes, Human, Pair 4 | Infant, Newborn, Diseases - enzymology | Epilepsy - diagnosis | Homozygote | Escherichia coli - genetics | Abnormalities, Multiple - diagnosis | Sulfurtransferases - deficiency | Abnormalities, Multiple - enzymology | Consanguinity | Energy metabolism | Mitochondria | Bioenergetics | Gene mutations | Epilepsy in children | Physiological aspects | Causes of | Genetic aspects | Research | Proteins | Amino acids | Mutation | Metabolism | Enzyme kinetics | Index Medicus | Urine | Enzymes | Lipoic acid | Epilepsy | Pyruvate dehydrogenase (lipoamide) | Pyruvic acid | Glycine | Prosthetic groups | Decarboxylation | Oxidation | Lactic acidosis | Report
Journal Article
2013, JIMD reports, ISBN 9783642373282, Volume 11
Web Resource
2013, ISBN 9783642373275
Web Resource
2017, 2nd ed. 2017., ISBN 3662494086
This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians... 
Medicine | General practice (Medicine) | Neurology | Pathology | Pediatrics | Internal medicine | Human genetics
Web Resource
Journal Article
Journal Article
medizinische genetik, ISSN 0936-5931, 10/2015, Volume 27, Issue 3, pp. 267 - 267
Journal Article
medizinische genetik, ISSN 0936-5931, 10/2015, Volume 27, Issue 3, pp. 268 - 275
Klinisches Bild, Diagnose und Therapie der erblichen Stoffwechselkrankheiten lassen sich am besten aus den spezifischen betroffenen Stoffwechselwegen ableiten,... 
Human Genetics | Pediatrics | Inborn errors of metabolism | Intermediärstoffwechsel | Inherited metabolic diseases | Screening | Stoffwechseldiagnostik | Medicine & Public Health | Metabolic tests | Obstetrics/Perinatology | Angeborene Stoffwechselkrankheiten | Intermediary metabolism | Differenzialdiagnose | Reproductive Medicine
Journal Article
medizinische genetik, ISSN 0936-5931, 10/2015, Volume 27, Issue 3, p. 268
Clinical presentation, diagnosis, and treatment of inherited metabolic diseases are best understood with regard to the metabolic pathway that contains the... 
Enzymes | Genetic aspects | Fatty acids
Journal Article
medizinische genetik, ISSN 0936-5931, 10/2015, Volume 27, Issue 3, p. 267
Journal Article
Journal Article
2017, JIMD Reports, ISBN 9783662550120, Volume 33
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously... 
Medicine | Pediatrics | Metabolic diseases | Molecular biology | Human genetics
Web Resource
2017, JIMD Reports, ISBN 9783662555866, Volume 34
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously... 
Medicine | Pediatrics | Metabolic diseases | Molecular biology | Human genetics
Web Resource
2017, JIMD Reports, ISBN 366254119X, Volume 31
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously... 
Medicine | Pediatrics | Metabolic diseases | Molecular biology | Human genetics
Web Resource
2017, 1st ed. 2017., JIMD Reports, ISBN 3662543850
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously... 
Medicine | Pediatrics | Metabolic diseases | Molecular biology | Human genetics
Web Resource
2017, JIMD Reports, ISBN 3662563592, Volume 37
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously... 
Medicine | Pediatrics | Metabolic diseases | Molecular biology | Human genetics
Web Resource
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