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Journal of inherited metabolic disease, ISSN 0141-8955, 1978
Journal
1980, Croom Helm biology in medicine series, ISBN 0709900260, 105
Book
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 5/2018, Volume 41, Issue 3, pp. 309 - 328
Patients with an inborn error of metabolism (IEM) are deficient of an enzyme involved in metabolism, and as a consequence metabolism reprograms itself to reach... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Enzymes | Medical research | Urea | Metabolites | Glycogen | Analysis | Genomics | Medicine, Experimental | Phenylketonuria | Phenotypes | Inborn errors of metabolism | Aciduria | Genomes | Metabolism | Acyl-CoA dehydrogenase | Metabolic flux | Metabolic pathways | Metabolomics
Journal Article
Journal Article
1970, Rev., Public Health Service publication, Volume no. 2049, 125
Book
Genetics in Medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 102 - 106
Purpose: We propose a nosology for inborn errors of metabolism that builds on their recent redefinition. Methods: We established a strict definition of... 
Inherited metabolic disorders | Nosology | Inborn errors of metabolism | Classification | PCBD1 CAUSE | CYSTINURIA | DOMINANT | DELETION | HYPOTONIA | GENETICS & HEREDITY | MUTATIONS | DOPA-RESPONSIVE DYSTONIA | INHERITANCE | TRAITS | Metabolism | Collaboration | Psychiatrists | Index Medicus | inborn errors of metabolism | inherited metabolic disorders | classification
Journal Article
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