Lista de obras -

A clinical study of 77 patients with mucopolysaccharidosis type II

artículo científico publicado en 2007

A comprehensive program for the diagnosis of Niemann–Pick disease type C in Brazil (NPC Brazil Network)

artículo científico publicado en 2013

A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity

artículo científico publicado en 2012

CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy

artículo científico publicado en 2004

Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)

Diagnosis of Mucopolysaccharidoses

scientific article published on 22 March 2020

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

artículo científico publicado en 2015

Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report

artículo científico publicado en 2008

Further cases of “neighbor” mutations in mucopolysaccharidosis type II

artículo científico publicado en 2006

Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis

artículo científico publicado en 2012

Identification of a Novel Mutation in the ARSB Gene That Is Frequent Among Brazilian MPSVI Patients

article

In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cells

artículo científico publicado en 2008

Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-L-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice

artículo científico publicado en 2012

Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.

artículo científico publicado en 2009

Lysosomal diseases: Overview on current diagnosis and treatment

artículo científico publicado en 2019

MPS I and MPS II: Minimal estimated incidence in Brazil and comparison to the rest of the world

article

Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene

artículo científico publicado en 2013

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength

article

Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient

artículo científico publicado en 2009

Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria

scientific article published on 05 November 2019

Non-immune hydrops fetalis: A prospective study of 53 cases

artículo científico publicado en 2013

Nonviral in vivo gene transfer in the mucopolysaccharidosis I murine model

artículo científico publicado en 2005

Oxysterol measurement in plasma: A potentially useful tool for the screening of Niemann–Pick disease type C disease

artículo científico publicado en 2015

Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report

artículo científico publicado en 2014

Population medical genetics: translating science to the community

scientific article published on 11 April 2019

Recombinant encapsulated cells overexpressing alpha-L-iduronidase correct enzyme deficiency in human mucopolysaccharidosis type I cells

artículo científico publicado en 2011

Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory

artículo científico publicado en 2017

Screening of high-risk Gaucher disease patients using dried blood spots techniques

artículo científico publicado en 2013

Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center

artículo científico publicado en 2019

Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases

artículo científico publicado en 2006

Lista de obras de

A clinical study of 77 patients with mucopolysaccharidosis type II

A comprehensive program for the diagnosis of Niemann–Pick disease type C in Brazil (NPC Brazil Network)

A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity

CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy

Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)

Diagnosis of Mucopolysaccharidoses

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report

Further cases of “neighbor” mutations in mucopolysaccharidosis type II

Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis

Identification of a Novel Mutation in the ARSB Gene That Is Frequent Among Brazilian MPSVI Patients

In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cells

Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-L-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice

Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.

Lysosomal diseases: Overview on current diagnosis and treatment

MPS I and MPS II: Minimal estimated incidence in Brazil and comparison to the rest of the world

Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength

Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient

Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria

Non-immune hydrops fetalis: A prospective study of 53 cases

Nonviral in vivo gene transfer in the mucopolysaccharidosis I murine model

Oxysterol measurement in plasma: A potentially useful tool for the screening of Niemann–Pick disease type C disease

Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report

Population medical genetics: translating science to the community

Recombinant encapsulated cells overexpressing alpha-L-iduronidase correct enzyme deficiency in human mucopolysaccharidosis type I cells

Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory

Screening of high-risk Gaucher disease patients using dried blood spots techniques

Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center

Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases