Found: 8
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Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
- Published in:
- Journal of Neurology, 2009, v. 256, n. 11, p. 1881, doi. 10.1007/s00415-009-5219-y
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- Article
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 875, doi. 10.1038/ejhg.2008.34
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- Article
Safety, pharmacokinetics and target engagement of novel RIPK1 inhibitor SAR443060 (DNL747) for neurodegenerative disorders: Randomized, placebo‐controlled, double‐blind phase I/Ib studies in healthy subjects and patients.
- Published in:
- CTS: Clinical & Translational Science, 2022, v. 15, n. 8, p. 2010, doi. 10.1111/cts.13317
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- Article
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. E13, doi. 10.1002/humu.20745
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- Article
Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.
- Published in:
- Human Mutation, 1998, v. 11, n. 5, p. 410, doi. 10.1002/(SICI)1098-1004(1998)11:5<410::AID-HUMU10>3.0.CO;2-8
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- Article
Fine Mapping of the Human Biotinidase Gene and Haplotype Analysis of Five Common Mutations.
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- Human Heredity, 2000, v. 50, n. 2, p. 102, doi. 10.1159/000022897
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- Article
Profound Biotinidase Deficiency Caused by a Point Mutation That Creates a Downstream Cryptic 3′ Splice Acceptor Site Within an Exon of the Human Biotinidase Gene.
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- Human Molecular Genetics, 1997, v. 6, n. 5, p. 739, doi. 10.1093/hmg/6.5.739
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- Article
Deletion/Insertion Mutation That Causes Biotinidase Deficiency May Result from the Formation of a Quasipalindromic Structure.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1657, doi. 10.1093/hmg/5.10.1657
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- Article