"Hydrops Fetalis" search results...

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.

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.

MPS

A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management

2020-02-01

Early and accurate diagnosis in the asymptomatic stage is critical for mucopolysaccharidosis (MPS) patients. This study updates details on the clinical manifestations, diagnosis, and treatment of the various types of MPS with the hopes of generating further interest in the disease.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

GAUCHER

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

GAUCHER

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

MPS

A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management

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