List of works - Helena Poupětová

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

scientific article published on 13 October 2006

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

scientific article

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

scientific article

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

scientific article published on 25 July 2016

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

scientific article published on 06 July 2013

Enzyme replacement therapy for Gaucher disease in twin pregnancy

scientific article published on 05 April 2009

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

scientific article published on 24 November 2016

Molecular pathology of NEU1 gene in sialidosis ⬇️

scientific article published on November 1, 2003

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

scientific article published on 28 December 2006

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

scientific article

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

scientific article

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

scientific article published on 31 October 2013

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

scientific article published in August 2001

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

scientific article

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.

scientific article published on 20 March 2008

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

scientific article published on 01 January 1994

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

scientific article published on 01 March 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

scientific article published on 01 January 2000

The coincidence of IgA nephropathy and Fabry disease

scientific article

List of works by Helena Poupětová

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