Lista de obras - Helena Poupetova - Dominio Público Uruguay

A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.

artículo científico publicado en 2006

Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.

artículo científico publicado en 2008

Characterization of gana-1, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate alpha-galactosidase and alpha-N-acetylgalactosaminidase

artículo científico publicado en 2005

Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency

article

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

artículo científico publicado en 2016

Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy.

artículo científico publicado en 2013

Enzyme replacement therapy for Gaucher disease in twin pregnancy

artículo científico publicado en 2009

Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.

artículo científico publicado en 2016

Molecular pathology of NEU1 gene in sialidosis ⬇️

artículo científico publicado el 1 de noviembre de 2003

Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.

artículo científico publicado en 2006

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

artículo científico publicado en 2009

Novel mutations associated with metachromatic leukodystrophy: Phenotype and expression studies in nine Czech and Slovak patients

scientific article published on 01 September 2004

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

artículo científico publicado en 2014

Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS).

artículo científico publicado en 2013

Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementation group). Report of a case.

artículo científico publicado en 2001

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.

artículo científico publicado en 2017

Recurrence of Fabry disease as a result of paternal germline mosaicism for α-galactosidase a gene mutation

article

Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.

artículo científico publicado en 2008

Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria

artículo científico publicado en 1994

Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer

artículo científico publicado en 2000

Testis - a novel storage site in human cholesteryl ester storage disease. Autopsy report of an adult case with a long-standing subclinical course complicated by accelerated atherosclerosis and liver carcinoma

artículo científico publicado en 2000

The coincidence of IgA nephropathy and Fabry disease

artículo científico publicado en 2013

Lista de obras de Helena Poupetova

A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.

Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.

Characterization of gana-1, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate alpha-galactosidase and alpha-N-acetylgalactosaminidase

Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy.

Enzyme replacement therapy for Gaucher disease in twin pregnancy

Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.

Molecular pathology of NEU1 gene in sialidosis ⬇️

Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

Novel mutations associated with metachromatic leukodystrophy: Phenotype and expression studies in nine Czech and Slovak patients

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS).

Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementation group). Report of a case.

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.

Recurrence of Fabry disease as a result of paternal germline mosaicism for α-galactosidase a gene mutation

Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.

Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria

Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer

Testis - a novel storage site in human cholesteryl ester storage disease. Autopsy report of an adult case with a long-standing subclinical course complicated by accelerated atherosclerosis and liver carcinoma

The coincidence of IgA nephropathy and Fabry disease

Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from α-mannosidosis patients