Vladimir Bzduch

Bratislava, BL, Slovakia

Last Updated: 09/26/2026

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Found 18 publications

Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.

Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.

Journal: Journal of inherited metabolic disease

Published: October 24, 2025

Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.

Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.

Journal: BMC pediatrics

Published: August 03, 2021

Congenital disorders of glycosylation - an umbrella term for rapidly expanding group of rare genetic metabolic disorders - importance of physical investigation.

Congenital disorders of glycosylation - an umbrella term for rapidly expanding group of rare genetic metabolic disorders - importance of physical investigation.

Journal: Bratislavske lekarske listy

Published: February 23, 2021

A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.

A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.

Journal: American journal of medical genetics. Part A

Published: January 28, 2021

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

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

Journal: Molecular genetics and metabolism reports

Published: June 24, 2020

Ophthalmological finding in a patient with lowe syndrome.

Ophthalmological finding in a patient with lowe syndrome.

Journal: Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti

Published: January 18, 2019

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

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

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: April 06, 2017

Cataract and early nystagmus due to galactokinase deficiency.

Cataract and early nystagmus due to galactokinase deficiency.

Journal: Journal of inherited metabolic disease

Published: January 30, 2017

GAI - distinct genotype and phenotype characteristics in reported Slovak patients.

GAI - distinct genotype and phenotype characteristics in reported Slovak patients.

Journal: Bratislavske lekarske listy

Published: January 28, 2017

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

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

Journal: Diabetes research and clinical practice

Published: December 02, 2016

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

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

Journal: Clinical genetics

Published: September 21, 2016

The significance of electron microscopic examination of gingiva in cases of Hunter syndrome and hereditary gingival fibromatosis.

The significance of electron microscopic examination of gingiva in cases of Hunter syndrome and hereditary gingival fibromatosis.

Journal: Neuro endocrinology letters

Published: September 03, 2016

Showing 1-12 of 18

Last Updated: 09/26/2026