Lista de obras -

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

artículo científico publicado en 2004

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

artículo científico publicado en 2012

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

artículo científico publicado en 2005

A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds

artículo científico publicado en 2013

Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease.

artículo científico publicado en 2008

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

Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

artículo científico publicado en 2012

Enzyme replacement therapy and fatigue in adults with Pompe disease

artículo científico publicado en 2013

Enzyme replacement therapy and fatigue in adults with Pompe disease.

artículo científico publicado en 2013

Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up

artículo científico publicado en 2004

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

Fatigue: an important feature of late-onset Pompe disease

artículo científico publicado en 2007

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

scientific article published on 29 March 2006

Future therapeutic options.

artículo científico publicado en 2013

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

scientific article published on 07 August 2019

Genotype-phenotype correlation in adult-onset acid maltase deficiency

article

Hearing in adults with Pompe disease

artículo científico publicado en 2011

Hearing loss in Pompe disease revisited: results from a study of 24 children

artículo científico publicado en 2010

Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse

scientific journal article

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

artículo científico publicado en 2012

Identification and characterization of the interaction between tuberin and 14-3-3zeta

artículo científico publicado en 2002

Impact of enzyme replacement therapy on survival in adults with Pompe disease

artículo científico publicado en 2013

Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study

artículo científico publicado en 2013

Impaired performance of skeletal muscle in alpha-glucosidase knockout mice

scientific journal article

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

L-alanine supplementation in late infantile glycogen storage disease type II.

artículo científico publicado en 2002

Lentiviral Stem Cell Gene Therapy for Pompe Disease

artículo científico publicado en 2015

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

Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density

artículo científico

Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principles

artículo científico publicado en 2006

Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)

artículo científico publicado en 2013

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

Newborn screening for pompe disease? a qualitative study exploring professional views

artículo científico publicado en 2014

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease

artículo científico publicado en 2010

Phenotypical variation within 22 families with Pompe disease

artículo científico publicado en 2013

Pompe's disease

artículo científico publicado en 2008

Public support for neonatal screening for Pompe disease, a broad-phenotype condition

artículo científico publicado en 2012

Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up

artículo científico publicado en 2015

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

artículo científico publicado en 2012

Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program

artículo científico publicado en 2015

Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening.

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy ⬇️

artículo científico publicado el 1 de junio de 2011

The genotype-phenotype correlation in Pompe disease

artículo científico publicado en 2012

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

artículo científico publicado en 2003

The natural course of non-classic Pompe's disease; a review of 225 published cases

artículo científico publicado en 2005

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

artículo científico

Treatment options for lysosomal storage disorders: developing insights

artículo científico

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 cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

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

A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds

Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease.

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).

Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

Enzyme replacement therapy and fatigue in adults with Pompe disease

Enzyme replacement therapy and fatigue in adults with Pompe disease.

Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up

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

Fatigue: an important feature of late-onset Pompe disease

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

Future therapeutic options.

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Genotype-phenotype correlation in adult-onset acid maltase deficiency

Hearing in adults with Pompe disease

Hearing loss in Pompe disease revisited: results from a study of 24 children

Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse

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

Identification and characterization of the interaction between tuberin and 14-3-3zeta

Impact of enzyme replacement therapy on survival in adults with Pompe disease

Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study

Impaired performance of skeletal muscle in alpha-glucosidase knockout mice

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

L-alanine supplementation in late infantile glycogen storage disease type II.

Lentiviral Stem Cell Gene Therapy for Pompe Disease

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

Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density

Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principles

Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)

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

Newborn screening for pompe disease? a qualitative study exploring professional views

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease

Phenotypical variation within 22 families with Pompe disease

Pompe's disease

Public support for neonatal screening for Pompe disease, a broad-phenotype condition

Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up

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

Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program

Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening.

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

Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy ⬇️

The genotype-phenotype correlation in Pompe disease

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

The natural course of non-classic Pompe's disease; a review of 225 published cases

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Treatment options for lysosomal storage disorders: developing insights

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?