NADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with Leigh syndrome: implications for the diagnosis of inborn errors of the respiratory chain
| Autor: | E. M. van Lie Peters, H. G. Loggers, R. ten Houten, Rja Wanders, F. A. Wijburg, Pieter A. Bolhuis, Peter G. Barth, A. van Wilsem, Nicole H. Herzberg, Wim Ruitenbeek, G. D. Vos |
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| Přispěvatelé: | Other departments |
| Rok vydání: | 1991 |
| Předmět: |
Male
medicine.medical_specialty Respiratory chain Microbiology Oxidoreductase Internal medicine Genetics medicine NAD(P)H Dehydrogenase (Quinone) Humans Leigh disease Genetics (clinical) chemistry.chemical_classification biology Muscles NADH dehydrogenase Infant medicine.disease Human genetics Endocrinology Enzyme chemistry Lactic acidosis Child Preschool biology.protein Acidosis Lactic Leigh Disease Oxidation-Reduction Metabolism Inborn Errors |
| Zdroj: | Journal of inherited metabolic disease, 14(3), 297-300. Springer Netherlands |
| ISSN: | 0141-8955 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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