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Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type)

โœ Scribed by Sandra G. Heil; Marije Hogeveen; Leo A. J. Kluijtmans; P. J. van Dijken; Gerard B. van de Berg; Henk J. Blom; Eva Morava


Publisher
Springer
Year
2007
Tongue
English
Weight
173 KB
Volume
30
Category
Article
ISSN
0141-8955

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Genetic and cellular studies of oxidativ
โœ Eva Richard; Ana Jorge-Finnigan; Judit Garcia-Villoria; Begoรฑa Merinero; Lourdes ๐Ÿ“‚ Article ๐Ÿ“… 2009 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 254 KB

Methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) is the most frequent genetic disorder of vitamin B 12 metabolism. The aim of this work was to identify the mutational spectrum in a cohort of cblC-affected patients and the analysis of the cellular oxidative