Associated Papers
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study.
Wen B et al.
Human Molecular Genetics, 2022
Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.
Wang ZQ et al.
Journal of Molecular Medicine (berlin, Germany), 2011
Two novel mutations in phenylalanine hydroxylase gene and in vitro expression analysis on mutation Arg252Gln.
Zhang M et al.
Chinese Medical Sciences Journal = Chung-kuo I Hsueh K'o Hsueh Tsa Chih, 1997
Select a paper to view details