Lista de obras - Jana Ledvinová - Dominio Público Uruguay

A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency

artículo científico publicado en 1996

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

artículo científico publicado en 2006

A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate

artículo científico publicado en 2005

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation

artículo científico publicado en 2001

An Atypical Ultrastructural Pattern in Fabry's Disease: A Study on Its Nature and Incidence in 7 Cases

artículo científico publicado en 1990

Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process

artículo científico publicado en 2009

Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans

artículo científico publicado en 2010

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

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.

artículo científico publicado en 2002

Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographies

artículo científico publicado en 1999

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

artículo científico publicado en 2013

Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging.

artículo científico publicado en 2014

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase

artículo científico publicado en 2009

Glycosphingolipid profile of the apical pole of human placental capillaries: the relevancy of the observed data to Fabry disease

artículo científico publicado en 2012

Lactosylceramide in lysosomal storage disorders: a comparative immunohistochemical and biochemical study

artículo científico publicado en 2005

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

artículo científico publicado en 2006

N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.

artículo científico publicado en 2017

Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.

artículo científico publicado en 2017

New insights in cardiac structural changes in patients with Fabry’s disease

Niemann-Pick disease type C with enhanced glycolipid storage

artículo científico publicado en 1984

Niemann-Pick disease type C. Study on the nature of the cerebral storage process

artículo científico publicado en 1985

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

scientific article published on 01 September 2004

Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient

artículo científico publicado en 2005

Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.

artículo científico publicado en 2009

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

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

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

Semisynthesis of C17:0 isoforms of sulphatide and glucosylceramide using immobilised sphingolipid ceramide N-deacylase for application in analytical mass spectrometry.

artículo científico publicado en 2010

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 cholesterol ester storage disease (CESD) diagnosed in adulthood

scientific article published on 01 January 1990

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

artículo científico publicado en 2000

Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses.

artículo científico publicado en 2016

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

artículo científico publicado en 2010

Lista de obras de Jana Ledvinová

A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency

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

A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation

An Atypical Ultrastructural Pattern in Fabry's Disease: A Study on Its Nature and Incidence in 7 Cases

Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process

Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans

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

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.

Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographies

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

Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging.

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase

Glycosphingolipid profile of the apical pole of human placental capillaries: the relevancy of the observed data to Fabry disease

Lactosylceramide in lysosomal storage disorders: a comparative immunohistochemical and biochemical study

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

N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.

Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.

New insights in cardiac structural changes in patients with Fabry’s disease

Niemann-Pick disease type C with enhanced glycolipid storage

Niemann-Pick disease type C. Study on the nature of the cerebral storage process

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

Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient

Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.

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

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

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

Semisynthesis of C17:0 isoforms of sulphatide and glucosylceramide using immobilised sphingolipid ceramide N-deacylase for application in analytical mass spectrometry.

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

Subclinical course of cholesterol ester storage disease (CESD) diagnosed in adulthood

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

Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses.

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

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