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Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.

Using cultured skin fibroblasts, we studied the heterogeneity of inborn errors of leucine metabolism such as isovaleric acidemia (IVA), glutaric aciduria type II (GA II), and multiple carboxylase deficiency (MC). We first developed a simple macromolecular-labeling test to measure the ability of cell...

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書誌詳細
出版年:J Clin Invest
主要な著者: Dubiel, B, Dabrowski, C, Wetts, R, Tanaka, K
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Clinical Investigation 1983
主題:
オンライン・アクセス:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC370442/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6630517/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI111113
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