"Enzyme Assay" search results...

This study indicates that the use of enzyme assay as the first-tier test gives an acceptably low number of positive results that requires second/third tier testing.

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.

NCL

Neuronal Ceroid Lipofuscinoses in Children

2021-03-01

Neuronal ceroid lipofuscinoses (NCL) is not uncommon and diagnosis can be suspected based on clinical investigations and neuroimaging findings.

XLSD

Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants

2021-01-27

The study's goal was to determine the prevalence of the three treatable types of lysosomal storage disorders (Gaucher disease [GD], Pompe disease [PD], and Fabry disease [FD]) in a cohort of primarily urban-dwelling Africans, a previously unexplored genetic environment for LSDs.

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

XLSD

Pilot study of newborn screening for six lysosomal diseases in Brazil

ENZIM REPLASMAN TEDAVISI

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

NCL

Neuronal Ceroid Lipofuscinoses in Children

XLSD

Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants

MPS

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

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