"Mutasyonlar" search results...

This review provides an overview of the main features of FD, focusing on its molecular mechanism and the role of biomarkers.

GAUCHER

Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression

2022-07-08

This study summarizes the genetic and phenotypic "portraits" of 14 patients with Gaucher Disease (GD) type 1 in the Republic of North Macedonia, 4 of Macedonian and 10 of Albanian origin.

XLH

Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia

2022-02-17

This study's genetic and functional investigations revealed a novel genetic cause of XLH: The heterozygous mutation of PHEX (NM 000444.5: c.1768G > A).

POMPE

Molecular genetics of Pompe disease: A comprehensive overview

2019-07-01

To date, 582 mutations have been reported across the entire GAA gene which cause Pompe disease (PD). The data gathered in this review gives an overview of the molecular genetics of PD and can be used to help with diagnosis and genetic counselling of families who are affected by this disorder.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

FABRY

An Overview of Molecular Mechanisms in Fabry Disease Biomolecules.

GAUCHER

Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression

XLH

Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia

POMPE

Molecular genetics of Pompe disease: A comprehensive overview

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