Rare Diseases

Current bibliography for experts

"Gaucher Hastalığı" search results...

GAUCHER

Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis

2023-06-06

This descriptive study presents phenotypic heterogeneity and a novel clinical finding, transient neonatal cholestasis, among 13 patients with Gaucher disease (GD) type 3c.

GAUCHER

Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene

2023-01-01

This report provides the precious experience of the clinical presentation of perinatal lethal Gaucher disease (PLGD) and advice on reproductive medicine for the next pregnancy in a couple.

ENZIM REPLASMAN TEDAVISI

Targeted Screening for Gaucher Disease in High Suspicion Patients and Clinical Profile of Screen Positives in a Large Pediatric Multispecialty Hospital

2022-10-03

High-suspicion targeted screening of Gaucher disease in patients with splenomegaly and thrombocytopenia based on a dry blood spot enzyme assay is high yielding, effective strategy in identifying Gaucher disease patients.

GAUCHER

Global Epidemiology of Gaucher Disease: an Updated Systematic Review and Meta-analysis

2022-07-22

This is the first comprehensive systematic review that presented quantitative data of Gaucher disease (GD) global epidemiology.

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.

GAUCHER

Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene

2022-07-06

This study highlights the importance of accurate GBA analysis in Gaucher and Parkinson’s disease patients.

GAUCHER

Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case

2022-06-15

Misdiagnosis and diagnostic delay in metabolic diseases could cause irreversible organ damage and delay the start of specific therapy for these patients.

GAUCHER

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report

2022-05-12

This report highlights the necessity of screening the Tunisian population for the rare p.Arg87Trp variant.

GAUCHER

A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

2022-04-01

Early diagnosis is essential for Gaucher disease and prenatal diagnosis makes genetic counselling possible for future pregnancies.

GAUCHER

Newborn screening for Gaucher disease in Japan

2022-02-18

The prevalence of Gaucher disease (GD) using newborn screening (NBS) was 1 in 77,720 in Japan, which was higher than previously estimated frequency.

GAUCHER

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

2022-01-30

A paradigm change may be considered for the diagnosis of Gaucher disease based on lyso-Gb1 measurements and confirmatory GBA1 mutation analyses in dried blood spot.

GAUCHER

The definition of neuronopathic Gaucher disease

2021-08-02

In this article, the various forms of Gaucher disease are defined with particular emphasis on the presence of gaze palsy in all patients with Neuronopathic Gaucher disease (nGD).

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