Rare Diseases

Current bibliography for experts

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MPS

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

2025-02-01

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.

POMPE

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

2023-08-04

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.

FABRY

Low skeletal muscle mass as an early sign in children with fabry disease

2023-07-21

Low skeletal muscle mass is a common early symptom in children with Fabry disease (FD), suggesting that skeletal muscle is significantly affected in the early stages of FD.

XLSD

Pilot study of newborn screening for six lysosomal diseases in Brazil

2023-07-13

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.

FABRY

A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease

2023-06-10

This article reports a rare familial case of inherited cardiac Fabry disease (FD) associated with a novel double mutation in the GLA gene: W24R and N419D.

GAUCHER

Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis

2023-06-06

This descriptive study presents phenotypic heterogeneity and a novel clinical finding, transient neonatal cholestasis, among 13 patients with Gaucher disease (GD) type 3c.

MPS

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

2023-04-05

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.

ENZIM REPLASMA TERAPISI

Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?

2023-03-29

This paper presents a family in which a novel GLA pathogenic variant was associated with aseptic meningitis in 2 of 5 family members.

CTX

A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene

2023-01-11

This article describes a rare case of cerebrotendinous xanthomatosis (CTX) disorder associated with a mutation on COG8 gene, which presented by unusual symptoms.

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.

CSID

Severe pathogenic variants of intestinal sucrase-isomaltase interact avidly with the wild type enzyme and negatively impact its function and trafficking

2022-11-01

This study provides novel insights into the potential role of heterozygosity in the pathophysiology of congenital sucrase-isomaltase deficiency and irritable bowel syndrome.

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