Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

פריטים דומים

• MRI Features of 4 Female Patients with Pyruvate Dehydrogenase E1 alpha Deficiency
  מאת: Mew, Nicholas Ah, et al.
  יצא לאור: (2011)
• Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.
  מאת: Dahl, H H, et al.
  יצא לאור: (1990)
• Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.
  מאת: Chun, K, et al.
  יצא לאור: (1991)
• Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
  מאת: Chun, K, et al.
  יצא לאור: (1995)
• An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.
  מאת: Takakubo, F, et al.
  יצא לאור: (1995)