4 Result(s)
within
François-Guillaume Debray
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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...
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Article
Correction: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy
Nat. Genet. 47, 73–77 (2015); published online 24 November 2014; corrected after print 6 February 2015 In the version of this article initially published, in Figure 2a, the order of the protein alterations for...
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Article
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy
Cas Simons, Ryan Taft and colleagues report the identification of KCNH1 mutations in six individuals with Temple-Baraitser syndrome (TBS). Electrophysiological measurements of cells expressing mutant KCNH1 channe...
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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....
