Lista de obras -

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn

artículo científico publicado en 2004

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.

artículo científico publicado en 2005

A rare presentation of childhood pompe disease: cardiac involvement provoked by Epstein-Barr virus infection

artículo científico publicado en 2002

Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II

artículo científico publicado en 2006

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

artículo científico publicado en 2012

Design and validation of a metabolic disorder resequencing microarray (BRUM1).

artículo científico publicado en 2010

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

artículo científico publicado en 2014

Enzyme therapy for Pompe disease: from science to industrial enterprise

artículo científico publicado en 2002

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity

artículo científico publicado en 2019

Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease)

scientific article published on 29 March 2006

Genotype-phenotype correlation in adult-onset acid maltase deficiency

article

Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.

artículo científico publicado en 2017

High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa

scientific article published on 14 August 2010

High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

artículo científico publicado en 2009

Identification and Characterization of Aberrant Splicing in Pompe Disease Using a Generic Approach

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

artículo científico publicado en 2012

Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.

artículo científico publicado en 2014

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots ⬇️

artículo científico publicado el 22 de enero de 2011

Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype

artículo científico publicado en 2010

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk

artículo científico publicado en 2004

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

artículo científico publicado en 2013

N-glycans of recombinant human acid alpha-glucosidase expressed in the milk of transgenic rabbits

artículo científico publicado en 2007

Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.

artículo científico publicado en 2016

Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease

artículo científico publicado en 2012

Response to Herbert et al

artículo científico publicado en 2017

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

scientific article published on 08 February 2019

Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease

artículo científico publicado en 2009

The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease

artículo científico publicado en 2018

The genotype-phenotype correlation in Pompe disease

artículo científico publicado en 2012

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

article

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

artículo científico publicado en 2008

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

artículo científico publicado en 2012

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

scientific article published on 27 February 2008

Lista de obras de

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.

A rare presentation of childhood pompe disease: cardiac involvement provoked by Epstein-Barr virus infection

Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

Design and validation of a metabolic disorder resequencing microarray (BRUM1).

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

Enzyme therapy for Pompe disease: from science to industrial enterprise

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity

Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease)

Genotype-phenotype correlation in adult-onset acid maltase deficiency

Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.

High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa

High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

Identification and Characterization of Aberrant Splicing in Pompe Disease Using a Generic Approach

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots ⬇️

Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

N-glycans of recombinant human acid alpha-glucosidase expressed in the milk of transgenic rabbits

Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.

Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease

Response to Herbert et al

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease

The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease

The genotype-phenotype correlation in Pompe disease

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?