Lista de obras - Lenka Dvořáková - Dominio Público Uruguay

ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.

artículo científico publicado en 2014

Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency

artículo científico publicado en 2017

Altered glutamate binding following quinolinate lesions in developing rat brain.

artículo científico publicado en 1994

An unusual cause of renal amyloidosis secondary to gout: the first description of familial occurrence

scientific article published on 01 January 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

Biochemical characteristics of gamma-glutamyl transpeptidase in capillaries from entorhinohippocampal complex of quinolinate-lesioned rat brain.

artículo científico publicado en 1997

Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency.

artículo científico publicado en 2012

Developmental changes in the activity of membrane-bound gamma-glutamyl transpeptidase and in the sialylation of synaptosomal membranes from the chick embryonic brain

artículo científico publicado el 1 de febrero de 1992

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

artículo científico publicado en 2016

Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.

artículo científico publicado en 2010

Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis

artículo científico publicado en 2011

Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations

artículo científico publicado en 2012

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

artículo científico publicado en 2001

Enzyme replacement therapy for Gaucher disease in twin pregnancy

artículo científico publicado en 2009

Evidence that deprotonation of serine-55 is responsible for the pH-dependence of the parvalbumin Eu3+ 7F0-->5D0 spectrum

scientific article published on 01 December 1992

FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism

artículo científico publicado en 2010

Genetic and clinical features of patients with Gaucher disease in Hungary

artículo científico publicado en 2007

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

artículo científico publicado en 2016

HGSNAT has a TATA-less promoter with multiple starts of transcription.

artículo científico publicado en 2016

Identification of novel informative loci for DNA-based X-inactivation analysis

artículo científico publicado en 2014

Indel in the FIC1/ATP8B1 gene?a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis

article

Intracerebroventricular administration of quinolinic acid induces a selective decrease of inositol(1,4,5)-trisphosphate receptor in rat brain.

artículo científico publicado en 1998

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

artículo científico publicado en 2013

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

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

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.

artículo científico publicado en 2013

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

artículo científico publicado en 2020

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

Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA

artículo científico publicado en 2012

Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.

artículo científico publicado en 2009

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

Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?

artículo científico publicado en 2006

The coincidence of IgA nephropathy and Fabry disease

artículo científico publicado en 2013

Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat.

artículo científico publicado en 2010

Unusual presentation of Kelley-Seegmiller syndrome.

artículo científico publicado en 2008

Lista de obras de Lenka Dvořáková

ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.

Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency

Altered glutamate binding following quinolinate lesions in developing rat brain.

An unusual cause of renal amyloidosis secondary to gout: the first description of familial occurrence

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

Biochemical characteristics of gamma-glutamyl transpeptidase in capillaries from entorhinohippocampal complex of quinolinate-lesioned rat brain.

Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency.

Developmental changes in the activity of membrane-bound gamma-glutamyl transpeptidase and in the sialylation of synaptosomal membranes from the chick embryonic brain

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

Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.

Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis

Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

Enzyme replacement therapy for Gaucher disease in twin pregnancy

Evidence that deprotonation of serine-55 is responsible for the pH-dependence of the parvalbumin Eu3+ 7F0-->5D0 spectrum

FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism

Genetic and clinical features of patients with Gaucher disease in Hungary

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

HGSNAT has a TATA-less promoter with multiple starts of transcription.

Identification of novel informative loci for DNA-based X-inactivation analysis

Indel in the FIC1/ATP8B1 gene?a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis

Intracerebroventricular administration of quinolinic acid induces a selective decrease of inositol(1,4,5)-trisphosphate receptor in rat brain.

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

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

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

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

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.

Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA

Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.

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

Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?

The coincidence of IgA nephropathy and Fabry disease

Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat.

Unusual presentation of Kelley-Seegmiller syndrome.