论文信息 - Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia - 字舞流文

Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia

M. Hanna | J. Land | S. Heales | P. Lee | A. Briddon | I. Hargreaves

[1] Garry K. Brown,et al. Pyruvate dehydrogenase E3 binding protein deficiency , 2002, Human Genetics.

[2] G. Brown,et al. “Cerebral” lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis , 2004, European Journal of Pediatrics.