The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.

Eight cases of isolated human pyruvate carboxylase deficiency were examined from seven families. Although all patients presented with a chronic lacticacidemia, two particular patients presented with the added features of hyperammonemia, citrullinemia, and hyperlysinemia. When cultured skin fibroblas...

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Bibliografski detalji
Glavni autori: Robinson, B H, Oei, J, Sherwood, W G, Applegarth, D, Wong, L, Haworth, J, Goodyer, P, Casey, R, Zaleski, L A
Format: Artigo
Jezik:Inglês
Izdano: 1984
Teme:
Research Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684418/
https://ncbi.nlm.nih.gov/pubmed/6424438
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