PHEX

Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype–PHEX Activity Correlation

ASMD

Case report: The spectrum of SMPD1 pathogenic variants in Hungary

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

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

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

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

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

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

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

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

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

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

ALFA-MANNOSIDOZ

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

This article presents the clinical and genetic study of six patients from two Tunisian families with alpha-mannosidosis.

POMPE

Molecular genetics of Pompe disease: A comprehensive overview

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.