PHEX

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

MPS

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

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.

FABRY

Identification of c.146G > A mutation in a Fabry patient and its correction by customized Cas9 base editors in vitro

This study identifies a significant mutation (c.146G>A) in exon 1 of the GLA gene in a female Fabry disease patient. Bioinformatic predictions and biochemical analyses revealed that this variant significantly reduced the stability and activity of α-galactosidase A, confirming its pathogenicity. Using an adenine base-editing technique, the mutation was corrected in vitro. The study not only identified a novel variant but also demonstrated the potential of the CRISPR/Cas9 system.

POMPE

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

This is the first study to analyze the genotype and phenotype of Malaysian infantile-onset Pompe disease (IOPD) patients, and has identified the c.1935C > A p.(D645E) as the most common mutation.

PHEX

X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant

This article presents a family with X-linked hypophosphatemia (XLH) who harbors the exon 13-15 duplication but does not carry the 3'UTR variant.

XLSD

Pilot study of newborn screening for six lysosomal diseases in Brazil

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.

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.

MPS

Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study

This study aimed to characterize the clinical characteristics and genotypes of the largest cohort of Chinese patients with mucopolysaccharidosis type II (MPS II).

FABRY

Population Frequency of Undiagnosed Fabry Disease in the General Population

This study confirms that Fabry disease is more common than previously recognized and still underdiagnosed especially in women.

MPS

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

The aim of the present study was to identify novel genes and pathogenic variants in families from diverse regions of Pakistan with clinically diagnosed mucopolysaccharidosis type I and mucopolysaccharidosis type II.

GAUCHER

Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy

This is a comprehensive study regarding the two most disease-specific biomarkers, glucosylsphingosine (Lyso-Gb1) and α-synuclein for Gaucher disease (GD) and Parkinson's disease (PD), respectively.

FABRY

Prevalence of Fabry disease-causing variants in the UK Biobank

The aim of this study is to determine the prevalence of Fabry disease-causing variants in UK Biobank.