"Genetik" search results...

The aim of this study is to determine the prevalence of Fabry disease-causing variants in UK Biobank.

GAUCHER

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: Our first 3720 patients

2022-09-30

The aim of this study is to present our experience using a multiomic approach, which integrates genetic and biochemical testing as a first-line diagnostic tool for patients with inherited metabolic disorders (IMDs).

PHEX

Genetic and clinical profile of patients with hypophosphatemic rickets

2022-08-01

This study proposes a customized gene panel for targeted exome sequencing, which will be useful for confirming the diagnosis in most patients with hypophosphatemic rickets.

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.

MPS

Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis

2022-05-27

A variant in the form of IDUA gene deletion may indicate an early severe phenotypic presentation of Mucopolysaccharidosis type I (MPS I).

FABRY

Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease

2022-04-01

A panel of Fabry disease (FD) specialists convened to study how expertise may compare with the traditional approach.

POMPE

Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment

2022-03-09

Careful evaluation of common pediatric presentations, which may be an indication of serious underlying pathologies, is of great importance.

POMPE

Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants

2022-01-15

In this study, 76 Spanish patients are reported with either infantile or late onset form of Pompe disease. Functional characterization of some splice mutations showed deleterious mechanisms on the processing of mRNA.

POMPE

Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening

2022-01-04

The aim of this study was to determine the outcomes of patients with later-onset Pompe disease (LOPD) identified through newborn screening (NBS).

LIPODISTROFI

Molecular and Cellular Bases of Lipodystrophy Syndromes

2022-01-03

In this study, the links between lipodystrophy and premature ageing and/or immuno-inflammatory aggressions of adipose tissue, as well as the relationships between lipomatosis and lipodystrophy are discussed.

FABRY

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

2021-04-09

In this review, the problems faced in the family genetic screening of patients affected with rare genetic diseases are highlighted by an international group of experts of Fabry disease. These problems include related costs, low awareness of its importance, cultural and societal issues, educational levels of the population, national geography and infrastructure, and a lack of medical geneticists.

FABRY

Application of Genetic Testing in Unveiling the Diagnosis of Fabry Disease in a Patient with Hypertrophic Cardiomyopathy

2021-04-01

In this paper, the case of a 40-year-old male FD patient with left ventricular hypertrophy is described.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

FABRY

Prevalence of Fabry disease-causing variants in the UK Biobank

GAUCHER

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: Our first 3720 patients

PHEX

Genetic and clinical profile of patients with hypophosphatemic rickets

GAUCHER

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

MPS

Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis

FABRY

Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease

POMPE

Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment

POMPE

Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants

POMPE

Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening

LIPODISTROFI

Molecular and Cellular Bases of Lipodystrophy Syndromes

FABRY

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

FABRY

Application of Genetic Testing in Unveiling the Diagnosis of Fabry Disease in a Patient with Hypertrophic Cardiomyopathy

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