Vladimir Bzdúch: search on Z-Library

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1

TMEM70 deficiency: long-term outcome of 48 patients

Magner, Martin, Dvorakova, Veronika, Tesarova, Marketa, Mazurova, Stella, Hansikova, Hana, Zahorec, Martin, Brennerova, Katarina, Bzduch, Vladimir, Spiegel, Ronen, Horovitz, Yoseph, Mandel, Hanna, Emi

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 512 KB

english, 2015

2

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

Magner, Martin, Dvorakova, Veronika, Tesarova, Marketa, Mazurova, Stella, Hansikova, Hana, Zahorec, Martin, Brennerova, Katarina, Bzduch, Vladimir, Spiegel, Ronen, Horovitz, Yoseph, Mandel, Hanna, Emi

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 80 KB

english, 2015

3

Williams syndrome in Slovakia

Bzdúch, Vladimír

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 74 KB

english, 1996

4

Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: Identification of six novel mutations, including a stop codon mutation (X380R)

Libor Kozák, Hana Francová, Lenka Fajkusová, Anna Pijácková, Jindriška Macku, Sylvie Štastná, Karolína Peškovová, Olga Martincová, Jakub Krijt, Vladimír Bzdúch

Journal:

Year:

2000

Language:

english

File:

PDF, 48 KB

english, 2000

5

Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis

Vladimír Bzdúch, Libor Kozák, Hana Francová, Darina Behúlová

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 42 KB

english, 2000

6

Importance of using two-dimensional echocardiography in familial supravalvular aortic stenosis

Vladimír Bzdúch, Jozef Mašura

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 89 KB

english, 1994

7

Radioulnar synostosis in Williams syndrome: A historical overview

Vladimír Bzdúch

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 65 KB

english, 1994

8

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia

Shigeo Kure, Kumi Kato, Agirios Dinopoulos, Chuck Gail, Ton J. deGrauw, John Christodoulou, Vladimir Bzduch, Rozalia Kalmanchey, Gyorgy Fekete, Alex Trojovsky, Barbara Plecko, Galen Breningstall, Jun

Journal:

Year:

2006

Language:

english

File:

PDF, 272 KB

english, 2006

9

Supravalvar aortic stenosis—A constant feature of Williams-Beuren syndrome

Vladimír Bzdúch, Jozef Mašura

Journal:

Pediatric Cardiology

Year:

1993

Language:

english

File:

PDF, 67 KB

english, 1993

10

Mutation analysis of theMECP2gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms

Daniela Zahorakova, Robert Rosipal, Jan Hadac, Alena Zumrova, Vladimir Bzduch, Nadezda Misovicova, Alice Baxova, Jiri Zeman, Pavel Martasek

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 279 KB

english, 2007

11

Interstitial deletion of the long arm of chromosome 6(q22.2q23) in a boy with phenotypic features of Williams syndrome

Vladimir Bzdúch, Margita Lukáčová

Journal:

Clinical Genetics

Year:

1989

Language:

english

File:

PDF, 120 KB

english, 1989

12

Hypercalcemic phase of williams syndrome

Vladimír Bzdúch

Journal:

The Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 70 KB

english, 1993

13

Radioulnar synostosis in Williams syndrome

Vladimír Bzdúch, Leo Spiššák

Journal:

The Journal of Pediatrics

Year:

1989

Language:

english

File:

PDF, 108 KB

english, 1989

14

Lack of Association Between Peripheral Activity of Thyroid Hormones and Elevated TSH Levels in Childhood Obesity

Lobotková, Denisa, Staníková, Daniela, Staník, Juraj, Cervenová, Ol’ga, Bzdúch, Vladimír, Tichá, L’ubica

Journal:

Journal of Clinical Research in Pediatric Endocrinology

Year:

2014

Language:

english

File:

PDF, 137 KB

english, 2014

15

Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease

Lubanda, Jean-Claude, Anijalg, Ene, Bzdúch, Vladimír, Thurberg, Beth L, Bénichou, Bernard, Tylki-Szymanska, Anna

Journal:

Genetics in Medicine

Year:

2009

Language:

english

File:

PDF, 350 KB

english, 2009

16

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

Dvorakova, Lenka, Vlaskova, Hana, Sarajlija, Adrijan, Petkovic Ramadza, Danijela, Poupetova, Helena, Hruba, Eva, Hlavata, Anna, Bzduch, Vladimir, Peskova, Karolina, Storkanova, Gabriela, Kecman, Bozic

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 1.43 MB

english, 2016

17

Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation

Stanik, Juraj, Skopkova, Martina, Brennerova, Katarina, Danis, Daniel, Rosolankova, Monika, Salingova, Anna, Bzduch, Vladimir, Klimes, Iwar, Gasperikova, Daniela

Journal:

Diabetes Research and Clinical Practice

Year:

2017

Language:

english

File:

PDF, 842 KB

english, 2017

18

Cataract and early nystagmus due to galactokinase deficiency

Bzduch, Vladimir, Tomcikova, Dana, Gerinec, Anton, Behulova, Darina

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 308 KB

english, 2017

19

Intrathecal baclofen in mucopolysaccharidosis type II (Hunter syndrome): case report

Horn, František, Petrík, Michal, Dúbravová, Dana, Hornová, Jarmila, Brennerová, Katrína, Bzduch, Vladimír

Journal:

Child's Nervous System

Year:

2018

Language:

english

File:

PDF, 352 KB

english, 2018

20

Neuroradiological brain phenotype in mucopolysaccharidosis type II patients from 5 European countries

Nestrasil, Igor, Nguyen, Carol, Vaneckova, Manuela, Burgetova, Andrea, Murgasova, Lenka, Zeman, Jiri, Ramadza, Danijela Petković, Baric, Ivo, Almassy, Zsuzsanna, Jurickova, Katarina, Bzduch, Vladimir,

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 57 KB

english, 2018

21

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

Marquardt, Thorsten, Bzduch, Vladimir, Hogrebe, Max, Rust, Stephan, Reunert, Janine, GrÃ¼neberg, Marianne, Park, Julien, Callewaert, Nico, Lachmann, Robin, Wada, Yoshinao, Engel, Thomas

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 674 KB

2020