[Human fibroblast bank for studying amino acid disorders and organic acidemias].
作者信息
del Valle J A, Merinero B, Pérez-Cerdá C, Ugarte M
出版信息
Rev Esp Fisiol. 1982;38 Suppl:207-10.
PMID:7146578
Abstract
The establishment of a fibroblast bank from patients with biochemical alterations in the metabolism of aminoacids and organic acids has been initiated. The patients suffered from distinct variants of maple syrup urine disease, propionic acidaemia, methylmalonic acidaemia, lactic acidosis and hyperglycinuria. Thirty six human cell lines corresponding to patients with these diseases, their relatives and control individuals have been accumulated.
摘要
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