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
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