Lista de obras -

Acid ceramidase maintains the chondrogenic phenotype of expanded primary chondrocytes and improves the chondrogenic differentiation of bone marrow-derived mesenchymal stem cells

artículo científico publicado en 2013

Acid ceramidase treatment enhances the outcome of autologous chondrocyte implantation in a rat osteochondral defect model.

artículo científico publicado en 2015

Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease

artículo científico publicado en 2006

Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child.

artículo científico publicado en 2007

Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VI

artículo científico publicado en 2011

Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses

artículo científico publicado en 2001

Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy

artículo científico publicado en 1996

Autologous transplantation of retrovirally transduced bone marrow or neonatal blood cells into cats can lead to long-term engraftment in the absence of myeloablation

artículo científico publicado en 1999

Bone marrow transplantation in newborn rats with mucopolysaccharidosis type VI: biochemical, pathological, and clinical findings

scientific article published on 01 May 1997

Cartilage and chondrocyte pathology in the mucopolysaccharidoses: The role of glycosaminoglycan-mediated inflammation ⬇️

artículo científico publicado el 1 de enero de 2010

Dose responsive effects of subcutaneous pentosan polysulfate injection in mucopolysaccharidosis type VI rats and comparison to oral treatment

artículo científico publicado en 2014

Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease

scientific article published on 31 May 2019

Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice

artículo científico publicado en 2017

Farber disease is characterized by typical features but a broad phenotypic spectrum: Selected information from a cohort of 37 patients

artículo científico publicado en 2016

Growth Plate Pathology in the Mucopolysaccharidosis Type VI Rat Model-An Experimental and Computational Approach

artículo científico publicado en 2020

Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease

artículo científico publicado en 2010

Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats

artículo científico publicado en 1999

Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease

artículo científico publicado en 2006

Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology

artículo científico publicado en 2000

Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes

artículo científico publicado en 2002

Intra-articular enzyme replacement therapy with rhIDUA is safe, well-tolerated, and reduces articular GAG storage in the canine model of mucopolysaccharidosis type I.

artículo científico publicado en 2014

Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses

artículo científico publicado en 2009

Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models

artículo científico publicado en 2005

Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases

artículo científico publicado en 2007

Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation

scientific journal article

N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI

scientific article published on 01 December 1995

Oral glycotoxins are a modifiable cause of dementia and the metabolic syndrome in mice and humans

artículo científico publicado en 2014

Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice.

artículo científico publicado en 2018

Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs

artículo científico publicado en 2016

Pentosan polysulfate: a novel therapy for the mucopolysaccharidoses

artículo científico publicado en 2013

Polyarticular arthritis as presenting feature of farber disease: a lysosomal storage disease involving inflammation.

artículo científico publicado en 2014

SAT0493 Farber Disease: First Natural History Cohort Demonstrates a Broad Clinical Spectrum with Implications for Juvenile Idiopathic Arthritis Patients

artículo científico publicado en 2015

Safety Study of Sodium Pentosan Polysulfate for Adult Patients with Mucopolysaccharidosis Type II

artículo científico publicado en 2019

Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).

artículo científico publicado en 2012

Systemic ceramide accumulation leads to severe and varied pathological consequences.

artículo científico publicado en 2013

The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations

artículo científico publicado en 2002

The genetics of sphingolipid hydrolases and sphingolipid storage diseases

artículo científico

Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study.

artículo científico publicado en 2016

Two Siblings with Niemann-Pick Disease (NPD) Type B: Clinical Findings and Novel Mutations of the Acid Sphingomyelinase Gene ⬇️

artículo científico publicado el 25 de febrero de 2012

Lista de obras de

Acid ceramidase maintains the chondrogenic phenotype of expanded primary chondrocytes and improves the chondrogenic differentiation of bone marrow-derived mesenchymal stem cells

Acid ceramidase treatment enhances the outcome of autologous chondrocyte implantation in a rat osteochondral defect model.

Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease

Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child.

Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VI

Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses

Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy

Autologous transplantation of retrovirally transduced bone marrow or neonatal blood cells into cats can lead to long-term engraftment in the absence of myeloablation

Bone marrow transplantation in newborn rats with mucopolysaccharidosis type VI: biochemical, pathological, and clinical findings

Cartilage and chondrocyte pathology in the mucopolysaccharidoses: The role of glycosaminoglycan-mediated inflammation ⬇️

Dose responsive effects of subcutaneous pentosan polysulfate injection in mucopolysaccharidosis type VI rats and comparison to oral treatment

Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease

Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice

Farber disease is characterized by typical features but a broad phenotypic spectrum: Selected information from a cohort of 37 patients

Growth Plate Pathology in the Mucopolysaccharidosis Type VI Rat Model-An Experimental and Computational Approach

Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease

Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats

Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease

Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology

Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes

Intra-articular enzyme replacement therapy with rhIDUA is safe, well-tolerated, and reduces articular GAG storage in the canine model of mucopolysaccharidosis type I.

Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses

Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models

Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases

Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation

N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI

Oral glycotoxins are a modifiable cause of dementia and the metabolic syndrome in mice and humans

Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice.

Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs

Pentosan polysulfate: a novel therapy for the mucopolysaccharidoses

Polyarticular arthritis as presenting feature of farber disease: a lysosomal storage disease involving inflammation.

SAT0493 Farber Disease: First Natural History Cohort Demonstrates a Broad Clinical Spectrum with Implications for Juvenile Idiopathic Arthritis Patients

Safety Study of Sodium Pentosan Polysulfate for Adult Patients with Mucopolysaccharidosis Type II

Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).

Systemic ceramide accumulation leads to severe and varied pathological consequences.

The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations

The genetics of sphingolipid hydrolases and sphingolipid storage diseases

Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study.

Two Siblings with Niemann-Pick Disease (NPD) Type B: Clinical Findings and Novel Mutations of the Acid Sphingomyelinase Gene ⬇️