Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis.
Autor: | Scholte HR; Department of Biochemistry, Erasmus University Rotterdam, The Netherlands., Busch HF, Luyt-Houwen IE |
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Jazyk: | angličtina |
Zdroj: | Journal of inherited metabolic disease [J Inherit Metab Dis] 1992; Vol. 15 (3), pp. 331-4. |
DOI: | 10.1007/BF02435969 |
Databáze: | MEDLINE |
Externí odkaz: |