"Genetic Diagnosis" search results...

A newly identified c.965C>T (p.Ala322Val) missense mutation in the GALNS gene has been associated with the severe form of Morquio syndrome (MPS IVA); the diagnosis was confirmed in a 3-year-old patient with skeletal abnormalities through whole exome sequencing, and early enzyme replacement therapy has been recommended to slow disease progression.

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).

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.

PHEX

Identification of six novel variants from nine Chinese families with hypophosphatemic rickets

2022-07-01

This study highlights the dominant role of PHEX in hypophosphatemic rickets (HR) and expand the genotypic and phenotypic spectra of this disorder.

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.

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

MPS

A Novel Missense Mutation (c.965C>T, p.Ala322Val) in the GALNS Gene: A Severe MPS IVA Case

GAUCHER

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

GAUCHER

Screening for potential undiagnosed Gaucher disease patients

PHEX

Identification of six novel variants from nine Chinese families with hypophosphatemic rickets

POMPE

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

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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