about
Characterization of gana-1, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate alpha-galactosidase and alpha-N-acetylgalactosaminidaseDetermination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographiesThe birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations.Glycosphingolipid profile of the apical pole of human placental capillaries: the relevancy of the observed data to Fabry disease.Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy.N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses.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.Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans.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.Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementation group). Report of a case.Lactosylceramide in lysosomal storage disorders: a comparative immunohistochemical and biochemical study.A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging.Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.Niemann-Pick disease type C. Study on the nature of the cerebral storage process.Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient.Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process.A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.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.Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from α-mannosidosis patientsNew insights in cardiac structural changes in patients with Fabry’s diseaseCombined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase DeficiencyA case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiencyAn Atypical Ultrastructural Pattern in Fabry's Disease: A Study on Its Nature and Incidence in 7 CasesRecurrence of Fabry disease as a result of paternal germline mosaicism for α-galactosidase a gene mutationRelationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak populationNovel mutations associated with metachromatic leukodystrophy: Phenotype and expression studies in nine Czech and Slovak patientsSubclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancerSialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduriaSubclinical course of cholesterol ester storage disease (CESD) diagnosed in adulthoodNiemann-Pick disease type C with enhanced glycolipid storage
P50
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P50
description
hulumtuese
@sq
researcher
@en
ricercatrice
@it
wetenschapper
@nl
հետազոտող
@hy
name
Jana Ledvinová
@ast
Jana Ledvinová
@cs
Jana Ledvinová
@en
Jana Ledvinová
@es
Jana Ledvinová
@nl
Jana Ledvinová
@sl
type
label
Jana Ledvinová
@ast
Jana Ledvinová
@cs
Jana Ledvinová
@en
Jana Ledvinová
@es
Jana Ledvinová
@nl
Jana Ledvinová
@sl
altLabel
Jana Ledvinová
@en
Jana Reinisova
@en
Jana Reinišová
@en
prefLabel
Jana Ledvinová
@ast
Jana Ledvinová
@cs
Jana Ledvinová
@en
Jana Ledvinová
@es
Jana Ledvinová
@nl
Jana Ledvinová
@sl
P214
P1053
F-5091-2017
P106
P1153
6701500712
P19
P21
P214
P31
P3829
P496
0000-0002-7408-031X
P569
1943-07-12T00:00:00Z
P691
jo2003163160