H. Hulkova

发表

Mutations in ANTXR1 cause GAPO syndrome.

A. Hoischen, J. Hehir-Kwa, H. Brunner, 2013, American journal of human genetics.

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

M. Kalbáčová, J. Fryns, K. Hodaňová, 2006, Kidney international.

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.

K. Hodaňová, S. Kmoch, J. Živný, 2010, Clinical nephrology.

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

K. Tory, C. Shaw-Smith, A. Jakubowska, 2020, Kidney international.

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

S. El Mestikawy, M. Darmon, A. Jalanko, 2010, Human molecular genetics.

Lactosylceramide in lysosomal storage disorders. A comparative immunohistochemical and biochemical study

M. Elleder, H. Hulkova, K. Kopřiva, 2005, Virchows Archiv.

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

C. van Broeckhoven, H. Hartmannová, L. Nosková, 2011, American journal of human genetics.

Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy

S. Kmoch, P. Novák, M. Elleder, 2008, Journal of Inherited Metabolic Disease.

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

M. Elleder, H. Hulkova, 2012, Histopathology.

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

M. Jirsa, M. Vanier, M. Hřebíček, 2019, Orphanet Journal of Rare Diseases.

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

Erez M. Bublil, T. Majtan, V. Kožich, 2020, Human mutation.

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

Y. Chagnon, M. Kalbáčová, J. Fryns, 2005, Kidney international.

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

B. Blumenstiel, K. Hodaňová, O. Viklicky, 2018, Journal of the American Society of Nephrology : JASN.

Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation.

L. Herlitz, G. Markowitz, A. Bleyer, 2017, American journal of kidney diseases : the official journal of the National Kidney Foundation.

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

C. van Broeckhoven, S. Berkovic, A. Meurs, 2018, Neurology.

More on clinical renal genetics.

F. Nevens, C. Antignac, M. Kalbáčová, 2010, Clinical journal of the American Society of Nephrology : CJASN.

AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?

K. Hodaňová, H. Hartmannová, S. Kmoch, 2022, bioRxiv.

[Postmortem diagnosis of Fabry disease in a female heterozygote leading to the detection of undiagnosed manifest disease in the family].

J. Zeman, M. Elleder, H. Hulkova, 1999, Casopis lekaru ceskych.

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

M. Elleder, M. Hřebíček, L. Dvořáková, 2006, Journal of Inherited Metabolic Disease.

Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene

J. Kautzner, K. Hodaňová, H. Hartmannová, 2013, Circulation. Cardiovascular genetics.

Autosomal dominant tubulointerstitial kidney disease: A review

S. Kmoch, A. Bleyer, V. Barešová, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Histochemical detection of GM1 ganglioside using cholera toxin-B subunit. Evaluation of critical factors optimal for in situ detection with special emphasis to acetone pre-extraction

M. Elleder, H. Hulkova, M. Jirkovská, 2010, European journal of histochemistry : EJH.

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

M. Elleder, H. Hulkova, F. Šmíd, 2012, Glycobiology.

Changes in transcription pattern lead to a marked decrease in COX, CS and SQR activity after the developmental point of the 22(nd) gestational week.

M. Tesařová, J. Zeman, T. Honzík, 2018, Physiological research.

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

A. Pshezhetsky, E. Hamel, M. Tesařová, 2015, Brain : a journal of neurology.

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

M. Elleder, H. Hulkova, H. Poupětová, 2009, Journal of Inherited Metabolic Disease.

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

S. Kmoch, E. Hrubá, T. Honzík, 2020, Journal of neuropathology and experimental neurology.

Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis.

M. Jirsa, M. Elleder, E. Sticova, 2013, World Journal of Gastroenterology.

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

J. Zeman, H. Hulkova, H. Hansíková, 2009, American journal of physiology. Cell physiology.

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

P. Mistry, M. Elleder, J. Aerts, 2010, Journal of Inherited Metabolic Disease.

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

Erez M. Bublil, T. Majtan, J. Kraus, 2017, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing

Eric S. Lander, Aviv Regev, Irit Gat-Viks, 2013, Nature Genetics.

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

Erez M. Bublil, T. Majtan, J. Kraus, 2016, The Journal of clinical investigation.

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

Martin Strohalm, V. Havlíček, R. Desnick, 2015, Analytical and Bioanalytical Chemistry.

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

M. Elleder, H. Hulkova, J. Sikora, 2008, Virchows Archiv.

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

A. Hoischen, G. Mortier, H. Brunner, 2016, American journal of human genetics.

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

W. Sessa, K. Hodaňová, H. Hartmannová, 2014, Cell metabolism.

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

M. Hřebíček, L. Dvořáková, H. Vlaskova, 2014, Orphanet Journal of Rare Diseases.

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

R. Druga, M. Elleder, L. Dvořáková, 2008, Acta Neuropathologica.

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.

M. Elleder, M. Hřebíček, H. Hulkova, 2001, Human molecular genetics.

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

C. Antignac, M. Kalbáčová, J. Fryns, 2009, American journal of human genetics.

Loss of function of Sco 1 and its interaction with cytochrome c oxidase

J. Zeman, H. Hulkova, H. Hansíková, 2009 .

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

J. Zeman, M. Elleder, H. Hulkova, 2008, Acta Pathologica, Microbiologica et Immunologica Scandinavica (APMIS).

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

H. Hulkova, H. Jahnová, Makiko Nakamura, 2013, European Journal of Human Genetics.

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

M. Elleder, H. Hulkova, 2010, Journal of Inherited Metabolic Disease.

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

P. Kuchynka, M. Tesařová, J. Zeman, 2020, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

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.

K. Hodaňová, M. Vrbacký, H. Hartmannová, 2016, Human molecular genetics.

Specific storage of glycoconjugates with terminal &agr;-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B

V. Havlíček, Ľ. Škultéty, H. Hulkova, 2018, Glycobiology.

Palladium causes bizarre skin hyperpigmentation in long‐term dihydrocodeinone ‘Braun’ abusers

M. Arenbergerova, P. Arenberger, O. Trhlíková, 2020, Journal of the European Academy of Dermatology and Venereology : JEADV.

Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma

P. Novák, M. Soucek, I. Márová, 2014, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

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

P. Kuchynka, M. Tesařová, J. Zeman, 2012, International heart journal.

[Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome].

J. Zeman, J. Houštěk, E. Hrubá, 1999, Casopis lekaru ceskych.

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

J. Zeman, A. Linhart, H. Vlaskova, 2018, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

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

M. Elleder, H. Rosewich, M. Hřebíček, 2005, Neuropediatrics.

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

F. Andermann, E. Andermann, K. Hodaňová, 2020, European Journal of Human Genetics.

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

R. Druga, M. Elleder, H. Hulkova, 2008, Acta Neuropathologica.

BILATERAL AMYLOIDOSIS OF THREE EYELIDS. A CASE REPORT.

H. Hulkova, J. Šach, P. Pavlíček, 2021, Czech and Slovak Ophthalmology.

GPD1 Deficiency – Underdiagnosed Cause of Liver Disease

M. Tesařová, J. Zeman, T. Honzík, 2020, The Indian Journal of Pediatrics.

Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.

S. Waikar, K. Hodaňová, H. Hartmannová, 2023, Kidney international.

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

Erez M. Bublil, T. Majtan, J. Kraus, 2016, The Journal of clinical investigation.