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within François-Guillaume Debray Remove this filter Biochemistry, general Remove this filter

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  1. No Access

    Article

    Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy

    Leukodystrophies are a heterogeneous group of severe genetic neurodegenerative disorders. A multiple mitochondrial dysfunctions syndrome was found in an infant presenting with a progressive leukoencephalopathy...

    François-Guillaume Debray, Claudia Stümpfig… in Journal of Inherited Metabolic Disease (2015)

  2. No Access

    Article

    Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases

    Sapropterin dihydrochloride (SD) is the first drug treatment for phenylketonuria (PKU), but due to the lack of data, its use in maternal PKU must be undertaken with caution as noted in the FDA and EMEA labels....

    François Feillet, Ania C. Muntau… in Journal of Inherited Metabolic Disease (2014)