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11/2018, JIMD Reports, ISBN 366258364X, Volume 42, 116
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously... 
Human Genetics | Pediatrics | Molecular Medicine | Biomedicine | Metabolic Diseases
eBook
08/2018, JIMD reports, ISBN 9783662580806, Volume 41, 129
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously... 
eBook
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 07/2019, Volume 42, Issue 4, pp. 673 - 685
Vitamin B12 (cobalamin, Cbl) is a nutrient essential to human health. Due to its complex structure and dual cofactor forms, Cbl undergoes a complicated series... 
methionine cycle | hyperhomocysteinemia | methylmalonic acidemia | folate | one‐carbon metabolism | vitamin B12 | Adenosylmethionine | 5-Methyltetrahydrofolate-homocysteine S-methyltransferase | Methionine | Amino acids | Vitamin B12 | Metabolism | Carbon | Folic acid | Mitochondria | Vitamin B | Metabolic pathways | Intracellular | Homocysteine | Methylation
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 04/2019, Volume 126, Issue 4, pp. 355 - 361
Regular carbohydrate intake to avoid hypoglycemia is the mainstay of dietary treatment in glycogen storage disease type I (GSDI). The aim of this study was to... 
Nephropathy | CGM | GSD | Glycogen storage disease | Glucose | Adenoma | Bone
Journal Article
02/2017, JIMD Reports, ISBN 3662543842, Volume 32, 123
'JIMD Reports' publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously... 
Metabolism, Inborn errors of
eBook
Molecular Genetics and Metabolism, ISSN 1096-7192, 10/2019
Journal Article
JOURNAL OF INHERITED METABOLIC DISEASE, ISSN 0141-8955, 07/2019, Volume 42, Issue 4, pp. 673 - 685
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 12/2019, Volume 14, Issue 1, pp. 1 - 9
Abstract Background Inborn errors of metabolism (IEM) are a group of rare, heterogeneous and complex genetic conditions. Clinically, IEM often affect the... 
Processing fluency | Patient education | Disease knowledge | Coping | Disease management | Self-efficacy
Journal Article
Human Mutation, ISSN 1059-7794, 08/2017, Volume 38, Issue 8, pp. 988 - 1001
Journal Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 06/2019, Volume 6, Issue 6, pp. 1072 - 1080
Background A 49‐year‐old male presented with late‐onset demyelinating peripheral neuropathy, cerebellar atrophy, and cognitive deficit. Nerve biopsy revealed... 
PATHOGENICITY | MUTATIONS | GENE | TRANSFER-RNA SYNTHETASE | NEUROSCIENCES | CLINICAL NEUROLOGY | Proteins | Genotype & phenotype | Enzymes | Disease | Protein synthesis | Genes | Nervous system | Ataxia | Mutation | Peripheral neuropathy
Journal Article
Annals of Nutrition and Metabolism, ISSN 0250-6807, 01/2018, Volume 71, Issue 3-4, pp. I - IV
Journal Article
Annals of Nutrition and Metabolism, ISSN 0250-6807, 01/2018, Volume 71, Issue 3-4, pp. 275 - 276
Journal Article
Annals of Nutrition and Metabolism, ISSN 0250-6807, 01/2018, Volume 71, Issue 3-4, pp. 277 - 277
Journal Article
Pediatrics International, ISSN 1328-8067, 08/2016, Volume 58, Issue 8, pp. 763 - 765
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2016, Volume 11, Issue 4, p. e0153358
Journal Article
2016, ISBN 3662497697
This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an... 
Medicine | Neurology | Pediatrics | Human genetics | Endocrinology
Web Resource
2016, Sixth edition., ISBN 3662497697
Web Resource