"Next-generation Sequencing" 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.

FABRY

Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene

2022-12-01

p.Pro380Leu novel pathogenic variant of GLA gene should be considered as pathogenic and associated with a late-onset variant of Fabry disease with a predominant neurological phenotype.

MPS

Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants

2022-09-01

This study presents the status of variant alleles and biochemistry results found in infants suspected of having MPS I, II, IVA, and VI.

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.

NIEMANN-PICK

Niemann-Pick type A disease with new mutation: A case report

2022-07-27

This presentation describes a 1-year-old boy with neurodevelopmental delay, hepatosplenomegaly, and severe hypotonia.

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.

NMDS

Novel Variants of ANO5 in Two Patients With Limb Girdle Muscular Dystrophy: Case Report

2022-04-08

The results of this study broaden the genotypic range of ANO5 disease and support the diagnostic value of next-generation sequencing in individuals with limb girdle muscular dystrophy.

MPS

Molecular characterization of a large cohort of mucopolysaccharidosis patients

2022-01-10

This extensive patient cohort reveals the genetic and geographic landscape of mucopolysaccharidosis (MPS) in Iran, which provides insight into genetic epidemiology of MPS and can facilitate a more cost-effective, time-efficient diagnostic approach based on the region-specific variants.

POMPE

Clinical manifestations and acid alpha-glucosidase mutation characterization of a cohort of patients with late-onset Pompe disease in eastern China

2021-12-01

This study has identified four novel variants in patients with LOPD. The c.2238G>C (p.W746C) mutation was the most common mutation in 14 patients with LOPD from eastern China.

ALFA-MANNOSIDOZ

Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene

2021-09-16

This article presents a 7-year-old girl child, born of a consanguineous marriage, presented with developmental delay, seizures, and hearing impairment.

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

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