about
Characterization of a rare Unverricht-Lundborg disease mutation.Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples.Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two SphingolipidosesCorrection of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense TherapyInduced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 geneMolecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity
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Q36571667-9B4C94D1-7582-4753-9385-81601AEB5FC7Q36962044-8546ABB0-0228-4755-B02C-8B287A99B385Q50040328-DD5EEB7F-DE84-4407-8F7B-9612AB653539Q58584862-B8FE27E3-5EC5-443B-9968-0A8764DE97BFQ58749769-31A84576-F276-451A-8D92-816E344819E1Q91072043-0D46E941-55D4-4A2F-A3D0-80CAB97BA9D7Q92881813-430490B6-D53F-48C3-AA16-0DBA1474D27B
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description
researcher
@en
name
Diogo Ribeiro
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type
label
Diogo Ribeiro
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prefLabel
Diogo Ribeiro
@en
P31
P496
0000-0002-4681-0354