| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/ANA.410360116 |
| P698 | PubMed publication ID | 8024267 |
| P50 | author | Paul M. Matthews | Q43864655 |
| P2093 | author name string | Susan Winter | |
| Tatsuya Fujii | |||
| Ruth M. Brown | |||
| Darryl C. De Vivo | |||
| Garry K. Brown | |||
| Hans-Henrik M. Dahl | |||
| Rosella Medori | |||
| Rudy N. Van Coster | |||
| Ruth M. Gubits | |||
| Susan E. Old | |||
| P2860 | cites work | Isolation and characterization of full-length cDNA clones for human alpha-, beta-, and gamma-actin mRNAs: skeletal but not cytoplasmic actins have an amino-terminal cysteine that is subsequently removed | Q24611061 |
| Neurodevelopmental abnormalities and lactic acidosis in a girl with a 20‐bp deletion in the X‐linked pyruvate dehydrogenase E1α subunit gene | Q52222810 | ||
| P433 | issue | 1 | |
| P921 | main subject | heterogeneity | Q928498 |
| P304 | page(s) | 83-89 | |
| P577 | publication date | 1994-07-01 | |
| P1433 | published in | Annals of Neurology | Q564414 |
| P1476 | title | Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneity | |
| P478 | volume | 36 |
| Q37636874 | Complex-I defect with minimal manifestations |
| Q40724231 | Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts |
| Q41741395 | Genetics and developmental delay |
| Q34215986 | Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein. |
| Q33637035 | Neonatal presentations of mitochondrial metabolic disorders |
| Q24672891 | Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again |
| Q47995917 | Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation. |
| Q46656169 | Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation |
| Q41180888 | The treatment of congenital lactic acidoses |
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