Lista de obras - Helena Hůlková - Dominio Público Uruguay

Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries

artículo científico publicado en 2010

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

artículo científico publicado en 2016

Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease)

artículo científico publicado en 2010

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.

artículo científico publicado en 2006

An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes

artículo científico publicado en 2020

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

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

Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation

artículo científico publicado en 2017

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

scientific article published on 09 January 2020

Brain disease in mucopolysaccharidosis III C mouse: Neuroinflammation, mitochondrial defects and neurodegeneration

CBS update: Structure, CBS replacement therapy, and H2S production

Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease ⬇️

artículo científico publicado el 26 de febrero de 2013

Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient

artículo científico publicado en 2020

Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens

scientific article published on 01 June 2012

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

artículo científico publicado en 2009

Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis

artículo científico publicado en 2013

Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria

artículo científico publicado en 2017

Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model.

artículo científico publicado en 2016

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

scientific journal article

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

artículo científico publicado en 2014

Familiar Amyloid Polyneuropathy – a Case Report

GPD1 Deficiency - Underdiagnosed Cause of Liver Disease

artículo científico publicado en 2020

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

artículo científico publicado en 2012

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

scientific journal article

Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male

scientific article published on 01 January 2012

Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.

artículo científico publicado en 2013

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

artículo científico publicado en 2005

Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient

artículo científico publicado en 2018

Long-term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria

artículo científico publicado en 2020

Loss of function of Sco1 and its interaction with cytochrome c oxidase

artículo científico publicado en 2009

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41

artículo científico publicado en 2005

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation

artículo científico publicado en 2014

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

artículo científico publicado en 2013

Mutations in ANTXR1 cause GAPO syndrome.

artículo científico publicado en 2013

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis.

artículo científico publicado en 2011

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

artículo científico publicado en 2011

NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease

artículo científico publicado en 2020

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.

artículo científico publicado en 2015

Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

artículo científico publicado en 2018

Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis

scientific article published on 06 February 2013

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

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene

artículo científico publicado en 2008

Subpial astrocytosis and focal leptomeningeal angiotropic astrocytosis leading to vascular compression: observations made in a case of mitochondrial encephalopathy

artículo científico publicado en 2008

Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma

artículo científico publicado en 2013

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion

artículo científico publicado en 2018

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

scientific article published on 05 April 2020

Val50Ala variant of familial amyloid neuropathy – a rare case in the Czech Republic

artículo científico publicado en 2015

Lista de obras de Helena Hůlková

Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease)

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.

An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes

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

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

Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

Brain disease in mucopolysaccharidosis III C mouse: Neuroinflammation, mitochondrial defects and neurodegeneration

CBS update: Structure, CBS replacement therapy, and H2S production

Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease ⬇️

Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient

Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis

Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria

Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model.

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

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

Familiar Amyloid Polyneuropathy – a Case Report

GPD1 Deficiency - Underdiagnosed Cause of Liver Disease

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

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male

Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.

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

Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient

Long-term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria

Loss of function of Sco1 and its interaction with cytochrome c oxidase

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Mutations in ANTXR1 cause GAPO syndrome.

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis.

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.

Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis

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

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

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

Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene

Subpial astrocytosis and focal leptomeningeal angiotropic astrocytosis leading to vascular compression: observations made in a case of mitochondrial encephalopathy

Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

Val50Ala variant of familial amyloid neuropathy – a rare case in the Czech Republic