Martin Reboun
Prague, PR, Czech Republic
Last Updated: 09/26/2026
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Found 14 publications
Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.
Journal: Molecular genetics and metabolism reports
Published: October 09, 2025
Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.
Journal: Journal of inherited metabolic disease
Published: September 29, 2025
Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.
Journal: International journal of molecular sciences
Published: August 19, 2023
Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Journal: American journal of medical genetics. Part A
Published: November 19, 2021
X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations.
Journal: Neuro endocrinology letters
Published: August 28, 2020
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
Journal: Orphanet journal of rare diseases
Published: November 27, 2019
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
Journal: American journal of medical genetics. Part A
Published: August 02, 2019
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
Journal: American journal of medical genetics. Part A
Published: March 15, 2018
Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.
Journal: Virchows Archiv : an international journal of pathology
Published: November 24, 2017
Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency.
Journal: Clinical chemistry and laboratory medicine
Published: August 10, 2016
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.
Journal: Folia biologica
Published: May 18, 2016
Last Updated: 09/26/2026