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Bzdúch, Vladimír
25  results:
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1

Importance of homocysteine determination in differential di..:

Brennerová, Katarína ; Grešíková, Monika ; Behúlová, Darina Schich..
Biologia.  77 (2022)  4 - p. 1103-1108 , 2022
Link: https://doi.org/10.1007/..
 
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2

Genetic testing is necessary for correct diagnosis and trea..:

Brennerová, Katarína ; Škopková, Martina ; Ostrožlíková, Mária...
BMC Pediatrics.  21 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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3

A novel homozygous mutation in the human ALG12 gene results..:

Ziburová, Jana ; Nemčovič, Marek ; Šesták, Sergej...
American Journal of Medical Genetics Part A.  185 (2021)  11 - p. 3494-3501 , 2021
Link: https://doi.org/10.1002/..
 
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4

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate tra..:

Marquardt, Thorsten ; Bzduch, Vladimir ; Hogrebe, Max...
Molecular Genetics and Metabolism Reports.  25 (2020)  - p. 100636 , 2020
Link: https://doi.org/10.1016/..
 
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5

Intrathecal baclofen in mucopolysaccharidosis type II (Hunt..:

Horn, František ; Petrík, Michal ; Dúbravová, Dana...
Child's Nervous System.  34 (2018)  11 - p. 2325-2327 , 2018
Link: https://doi.org/10.1007/..
 
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6

Neuroradiological brain phenotype in mucopolysaccharidosis ..:

Nestrasil, Igor ; Nguyen, Carol ; Vaneckova, Manuela...
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S105 , 2018
Link: https://doi.org/10.1016/..
 
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7

Congenital hyperinsulinism and glycogenosis-like phenotype ..:

Stanik, Juraj ; Skopkova, Martina ; Brennerova, Katarina...
Diabetes Research and Clinical Practice.  126 (2017)  - p. 144-150 , 2017
Link: https://doi.org/10.1016/..
 
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8

Cataract and early nystagmus due to galactokinase deficienc:

Bzduch, Vladimir ; Tomcikova, Dana ; Gerinec, Anton.
Journal of Inherited Metabolic Disease.  40 (2017)  5 - p. 749-750 , 2017
Link: https://doi.org/10.1007/..
 
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9

Erratum to: TMEM70 deficiency: long‐term outcome of 48 pati..:

Magner, Martin ; Dvorakova, Veronika ; Tesarova, Marketa...
Journal of Inherited Metabolic Disease.  38 (2015)  3 - p. 583-584 , 2015
Link: https://doi.org/10.1007/..
 
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10

TMEM70 deficiency: long‐term outcome of 48 patients:

Magner, Martin ; Dvorakova, Veronika ; Tesarova, Marketa...
Journal of Inherited Metabolic Disease.  38 (2014)  3 - p. 417-426 , 2014
Link: https://doi.org/10.1007/..
 
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11

Evaluation of a low dose, after a standard therapeutic dose..:

Lubanda, Jean-Claude ; Anijalg, Ene ; Bzdúch, Vladimír...
Genetics in Medicine.  11 (2009)  4 - p. 256-264 , 2009
Link: https://doi.org/10.1097/..
 
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12

Mutation analysis of the MECP2 gene in patients of Slavic o..:

Zahorakova, Daniela ; Rosipal, Robert ; Hadac, Jan...
Journal of Human Genetics.  52 (2007)  4 - p. 342-348 , 2007
Link: https://doi.org/10.1007/..
 
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13

Transient Hyperphosphatasemia of Infancy and Childhood: Stu..:

Ponec, Jozef ; Vasilenková, Alena ; Holešová, Darina..
Clinical Chemistry.  46 (2000)  11 - p. 1868-1869 , 2000
Link: https://doi.org/10.1093/..
 
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14

Letters to the Editor:

Fischer, Philip R. ; Gereige, Rani S. ; Cimino, David A....
Clinical Pediatrics.  34 (1995)  11 - p. 621-624 , 1995
Link: https://doi.org/10.1177/..
 
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15

Radioulnar synostosis in Williams syndrome: A historical ov..:

Bzdúch, Vladimír
American Journal of Medical Genetics.  50 (1994)  4 - p. 386-386 , 1994
Link: https://doi.org/10.1002/..
 
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