Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients
Autor: | J. B. C. de Klerk, L. Ijlst, Marinus Duran, Patrick Aubourg, C.A.J.M. Jakobs, F. Rocchiccioli, Rja Wanders, H. Przyrembel |
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Přispěvatelé: | Other departments |
Jazyk: | angličtina |
Rok vydání: | 1991 |
Předmět: |
medicine.medical_specialty
Mitochondria Liver Biology Lipid Metabolism Inborn Errors Clinical investigation Internal medicine Genetics medicine Humans Child Genetics (clinical) chemistry.chemical_classification Infant Newborn 3-Hydroxyacyl CoA Dehydrogenases Infant Fibroblasts Phenotype Infant newborn Hypoglycemia 3-Hydroxyacyl-CoA Dehydrogenase Endocrinology Enzyme chemistry Child Preschool Female Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Long chain Infant Premature |
Zdroj: | Journal of inherited metabolic disease, 14(3), 325-328. Springer Netherlands |
ISSN: | 0141-8955 |
DOI: | 10.1007/bf01811694 |
Databáze: | OpenAIRE |
Externí odkaz: |