Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts.

Lib, Margarita Y

Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts. [electronic resource] - The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society Jul 2002 - 877-84 p. digital

Publication Type: Journal Article

0022-1554

10.1177/002215540205000701 doi


Antibodies, Monoclonal
Antibody Specificity
Blotting, Western
Cell Line
Female
Fibroblasts--enzymology
Humans
Immunohistochemistry
Male
Mosaicism
Protein Subunits
Pyruvate Dehydrogenase (Lipoamide)--genetics
Pyruvate Dehydrogenase Complex Deficiency Disease--diagnosis
Reproducibility of Results