PHEX

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

GAUCHER

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

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

CLN2

Visual perception and macular integrity in non-classical CLN2 disease

The aim of the study was to provide longitudinal ophthalmic data of CLN2 patients with confirmed genetic mutation and non-classical disease course, marked by later onset, protracted progression and prolonged life span.

POMPE

Newborn screening for Pompe disease in Italy: Long-term results and future challenges

This study presents the results from 7 years of newborn screening (NBS) for Pompe disease (PD) and the management of infantile-onset (IOPD) and late-onset (LOPD) patients.

ENZIM REPLASMAN TEDAVISI

Targeted Screening for Gaucher Disease in High Suspicion Patients and Clinical Profile of Screen Positives in a Large Pediatric Multispecialty Hospital

High-suspicion targeted screening of Gaucher disease in patients with splenomegaly and thrombocytopenia based on a dry blood spot enzyme assay is high yielding, effective strategy in identifying Gaucher disease patients.

FABRY

X-chromosomal inactivation patterns in women with Fabry disease

This study investigates X-chromosomal inactivation patterns (XCI) as a potential determinant of symptom severity in women with Fabry disease (FD).

GAUCHER

Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression

This study summarizes the genetic and phenotypic "portraits" of 14 patients with Gaucher Disease (GD) type 1 in the Republic of North Macedonia, 4 of Macedonian and 10 of Albanian origin.

FABRY

The potential consequences of bidirectional promoter methylation on GLA and HNRNPH2 expression in Fabry disease phenotypes in a family of patients carrying a GLA deletion variant

According to the data obtained in this study, the DNA methylation of GLA-HNRNPH2 BDP may serve a role in diagnosing and treating Fabry disease (FD).

FABRY

Twenty years of the Fabry Outcome Survey (FOS): Insights, achievements, and lessons learned from a global patient registry

This study reviews the history of the Fabry Outcome Survey (FOS) and the analyses and publications disseminated from the registry, and discusses the contributions FOS studies have made in understanding Fabry Disease (FD).

GAUCHER

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

In this review, the challenges are investigated which physicians face in the diagnosis and management of Gaucher disease in pediatric patients.

MPS

Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: A mixed methods approach

This study demonstrates the unique potential of mixed methods research in rare diseases to address some of the current limitations of more traditional quantitative approaches by providing an individualized, detailed understanding of the patient experience.

POMPE

Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants

In this study, 76 Spanish patients are reported with either infantile or late onset form of Pompe disease. Functional characterization of some splice mutations showed deleterious mechanisms on the processing of mRNA.