"Missense Variants" search results...

This article reports the first description of all six diagnosed acid sphingomyelinase deficiency cases in Hungary.

NIEMANN-PICK

Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome

2022-09-16

This article reports a case of Niemann Pick disease type B with sea-blue histiocytes that was misdiagnosed as Budd-Chiari syndrome for three years.

FABRY

Functional characterization of novel variants found in patients with suspected Fabry disease

2022-09-01

This paper presents four novel variants found in patients with suspicion of Fabry disease (FD).

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.

MPS

Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA

2022-02-25

Based on the data this study reported, a systematic flowchart was generated correlating the GALNS variants to assist in phenotype prediction and classification of patients with MPS IVA.

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.

POMPE

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes

2021-11-30

This study describes the unusual clinical, biochemical, histopathological and genetic characteristics of 5 cases of LOPD.

FABRY

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing

2021-11-16

Long-read Oxford Nanopore sequencing technology can be used as an efficient and cost-effective tool for screening and diagnosing Fabry disease.

POMPE

Molecular genetics of Pompe disease: A comprehensive overview

2019-07-01

To date, 582 mutations have been reported across the entire GAA gene which cause Pompe disease (PD). The data gathered in this review gives an overview of the molecular genetics of PD and can be used to help with diagnosis and genetic counselling of families who are affected by this disorder.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

ASMD

Case report: The spectrum of SMPD1 pathogenic variants in Hungary

NIEMANN-PICK

Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome

FABRY

Functional characterization of novel variants found in patients with suspected Fabry disease

PHEX

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

MPS

Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA

POMPE

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

POMPE

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes

FABRY

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing

POMPE

Molecular genetics of Pompe disease: A comprehensive overview

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