Found: 21
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Generalised dystonia with an abnormal magnetic resonance imaging signal in the basal ganglia: A case of adult-onset GM1 gangliosidosis.
- Published in:
- Movement Disorders, 2002, v. 17, n. 5, p. 1095, doi. 10.1002/mds.10247
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- Publication type:
- Article
A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 275, doi. 10.1007/s00439-005-1288-x
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- Publication type:
- Article
Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients.
- Published in:
- Human Genetics, 2003, v. 112, n. 4, p. 426, doi. 10.1007/s00439-002-0894-0
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- Article
Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.
- Published in:
- 2012
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- Publication type:
- journal article
An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions-Relevance for Gaucher disease.
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- Proteins, 2008, v. 70, n. 3, p. 882, doi. 10.1002/prot.21554
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- Publication type:
- Article
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. 1117, doi. 10.1002/humu.21018
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- Publication type:
- Article
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.
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- Human Mutation, 2008, v. 29, n. 6, p. E58, doi. 10.1002/humu.20776
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- Publication type:
- Article
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
- Published in:
- Human Mutation, 2006, v. 27, n. 10, p. 1060, doi. 10.1002/humu.9451
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- Publication type:
- Article
A response to Kowarz et al.: Gaucher mutation c.680A>G (p.N227S) is associated with myoclonic epilepsy.
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- Human Mutation, 2005, v. 26, n. 3, p. 274, doi. 10.1002/humu.20218
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- Publication type:
- Article
Functional analysis of 13 mutant alleles identified in Gaucher disease patients: pathogenic changes and 'modifier' polymorphisms.
- Published in:
- Human Mutation, 2005, v. 26, n. 3, p. 276, doi. 10.1002/humu.20219
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- Publication type:
- Article
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and 'modifier' polymorphisms.
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- Human Mutation, 2004, v. 23, n. 6, p. 567, doi. 10.1002/humu.20043
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- Publication type:
- Article
Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous female (Communicated by Robert Desnick) Online Citation: Human Mutation, Mutation in Brief #643 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/643.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 258
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- Publication type:
- Article
Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous femaleCommunicated by Robert DesnickOnline Citation: Human Mutation, Mutation in Brief #643 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/643.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 258
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- Publication type:
- Article
Metachromatic leukodystrophy: A novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 375, doi. 10.1002/1098-1004(200010)16:4<375::AID-HUMU21>3.0.CO;2-C
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- Publication type:
- Article
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype-phenotype correlation studies in spanish metachromatic leukodystrophy patients.
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- Human Mutation, 1999, v. 14, n. 3, p. 240, doi. 10.1002/(SICI)1098-1004(1999)14:3<240::AID-HUMU7>3.0.CO;2-L
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- Publication type:
- Article
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.
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- Human Mutation, 1998, v. 12, n. 4, p. 274, doi. 10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F
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- Publication type:
- Article
Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome.
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- Human Mutation, 1998, v. 11, n. 4, p. 295, doi. 10.1002/(SICI)1098-1004(1998)11:4<295::AID-HUMU7>3.0.CO;2-6
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- Publication type:
- Article
Analysis of five mutations in 20 mucopolysaccharidosis type I patients: High prevalence of the W402X mutation.
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- Human Mutation, 1998, v. 11, n. 4, p. 332, doi. 10.1002/(SICI)1098-1004(1998)11:4<332::AID-HUMU16>3.0.CO;2-P
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- Publication type:
- Article
Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with hunter disease.
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- Human Mutation, 1998, v. 11, p. S66, doi. 10.1002/humu.1380110123
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- Publication type:
- Article
Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the β-glucocerebrosidase gene in Gaucher's disease patients.
- Published in:
- Human Mutation, 1996, v. 7, n. 3, p. 272, doi. 10.1002/(SICI)1098-1004(1996)7:3<272::AID-HUMU14>3.0.CO;2-#
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- Publication type:
- Article
Gaucher disease in Spanish patients: Analysis of eight mutations.
- Published in:
- Human Mutation, 1995, v. 5, n. 4, p. 303, doi. 10.1002/humu.1380050406
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- Publication type:
- Article