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Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations

Clinical genetics, 2005-09, Vol.68 (3), p.245-254

2005

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Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

Molecular genetics and metabolism, 2014-06, Vol.112 (2), p.160-170

2014

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Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

Molecular genetics and metabolism, 2010-04, Vol.99 (4), p.358-366

2010

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Molecular analysis of 30 Niemann-Pick type C patients from Spain

Clinical genetics, 2011-07, Vol.80 (1), p.39-49

2011

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Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles

Clinical genetics, 2011-10, Vol.80 (4), p.367-374

2011

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Glutaryl-CoA dehydrogenase deficiency in Spain : Evidence of two groups of patients, genetically, and biochemically distinct

Pediatric research, 2000-09, Vol.48 (3), p.315-322

2000

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X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females

Clinical genetics, 2005-05, Vol.67 (5), p.418-424

2005

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Analysis of the CTNS gene in 32 cystinosis patients from Spain

Clinical genetics, 2009-11, Vol.76 (5), p.486-489

2009

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Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula

Clinical genetics, 2008-03, Vol.73 (3), p.251-256

2008

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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

Human mutation, 1999, Vol.14 (3), p.240-248

1999

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Clinical and mutational characterization of three patients with multiple sulfatase deficiency: Report of a new splicing mutation

Molecular genetics and metabolism, 2005-09, Vol.86 (1), p.206-211

2005

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Hunter disease in the Spanish population: Molecular analysis in 31 families

Journal of inherited metabolic disease, 1998-08, Vol.21 (6), p.655-661

1998

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Analysis of five mutations in 20 mucopolysaccharidosis type I patients: High prevalence of the W402X mutation

Human mutation, 1998, Vol.11 (4), p.332-333

1998

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Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria

British journal of dermatology (1951), 2002-10, Vol.147 (4), p.760-764

2002

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Short Report: Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations

Clinical genetics, 2005-09, Vol.68 (3), p.245

2005

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Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations

Journal of inherited metabolic disease, 2001-02, Vol.24 (1), p.83-84

2001

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The contribution of molecular genetics to hereditary neurometabolic disorders

Revista de neurologiá, 2002-07, Vol.35 (2), p.149-153

2002

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Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients

Human mutation, 1998, Vol.12 (4), p.274-279

1998

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Calmodulin-binding proteins in the nuclei of quiescent and proliferatively activated rat liver cells

The Journal of biological chemistry, 1990-10, Vol.265 (30), p.18595-18600

1990

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Mutation Analysis of the GCDH Gene in Italian and Portuguese Patients with Glutaric Aciduria Type I

Molecular genetics and metabolism, 2000-11, Vol.71 (3), p.535-537

2000

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A new polymorphism in the iduronate‐2‐sulphatase gene. Implications for the diagnosis of Hunter disease

Journal of inherited metabolic disease, 1999-10, Vol.22 (7), p.844-844

1999

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Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with hunter disease

Human mutation, 1998, Vol.11 (S1), p.S66-S68

1998

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Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype

Journal of medical genetics, 1996-06, Vol.33 (6), p.458-464

1996

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Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi

Journal of inherited metabolic disease, 1998-06, Vol.21 (3), p.243-246

1998

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Molybdenum cofactor deficiency associated with Dandy‐Walker malformation

Journal of inherited metabolic disease, 1995-01, Vol.18 (1), p.86-87

1995

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Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

Molecular analysis of 30 Niemann-Pick type C patients from Spain

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles

Glutaryl-CoA dehydrogenase deficiency in Spain : Evidence of two groups of patients, genetically, and biochemically distinct

X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females

Analysis of the CTNS gene in 32 cystinosis patients from Spain

Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula

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

Clinical and mutational characterization of three patients with multiple sulfatase deficiency: Report of a new splicing mutation

Hunter disease in the Spanish population: Molecular analysis in 31 families

Analysis of five mutations in 20 mucopolysaccharidosis type I patients: High prevalence of the W402X mutation

Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria

Short Report: Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations

Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations

The contribution of molecular genetics to hereditary neurometabolic disorders

Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients

Calmodulin-binding proteins in the nuclei of quiescent and proliferatively activated rat liver cells

Mutation Analysis of the GCDH Gene in Italian and Portuguese Patients with Glutaric Aciduria Type I

A new polymorphism in the iduronate‐2‐sulphatase gene. Implications for the diagnosis of Hunter disease

Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with hunter disease

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype

Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi

Molybdenum cofactor deficiency associated with Dandy‐Walker malformation

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