"Next-generation Sequencing (ngs)" 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.

SÜKRAZ-IZOMALTAZ EKSIKLIĞI

Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates

2023-01-01

This clinical study revealed that sucrase-isomaltase deficiency may have been underdiagnosed in patients with chronic diarrhea in Turkey.

GAUCHER

Screening for potential undiagnosed Gaucher disease patients

2022-08-27

These findings imply that the prevalence of diagnosed patients (~1:325,000) may indeed correspond the true prevalence of Gaucher disease (GD) in Finland.

CLN2

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

2021-09-01

This study supports comprehensive genetic testing for patients whose first seizure occurs ≥ 24 months of age. It also supports early application of testing in this age group, as the identified diagnoses can have significant impact on patient management and outcome.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

XLSD

Pilot study of newborn screening for six lysosomal diseases in Brazil

SÜKRAZ-IZOMALTAZ EKSIKLIĞI

Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates

GAUCHER

Screening for potential undiagnosed Gaucher disease patients

CLN2

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

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