PHEX

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

CTX

Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure

This article presents an instance of cerebrotendinous xanthomatosis (CTX) manifest as neonatal cholestasis (NC) and requiring liver transplantation (LT).

PHEX

Genetic and clinical profile of patients with hypophosphatemic rickets

This study proposes a customized gene panel for targeted exome sequencing, which will be useful for confirming the diagnosis in most patients with hypophosphatemic rickets.

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.

FABRY

COVID-19 in Fabry disease: A reference center prospective study

In this study, it was investigated whether coronavirus infection poses a particular risk for Fabry patients.

NMDS

Serum miRNAs as biomarkers for the rare types of muscular dystrophy

It was shown that particular circulating miRNAs can be used as biomarkers for muscular dystrophies like Facioscapulohumeral Muscular Dystrophy, Limb-Girdle Muscular Dystrophy and Myotonic Dystrophy type 2.

FABRY

Growth Differentiation Factor-15 and Syndecan-1 Are Potential Biomarkers of Cardiac and Renal Involvement in Classical Fabry Disease under Enzyme Replacement Therapy

Growth Differentiation Factor-15 (GDF-15) and Syndecan-1 were associated with parameters of cardiac and renal involvement in classic Fabry disease patients on enzyme replacement therapy (ERT). Their potential association with residual risk and disease outcomes should be investigated.

FABRY

Value of Left Ventricular Feature Tracking Strain Analysis for Detection of Early Cardiac Involvement in Fabry Disease (FD)

According to the findings of this study, strain abnormalities occur early beside native T1 reductions in cardiac FD involvement.

NIEMANN-PICK

Changes in PCSK 9 and apolipoprotein B100 in Niemann-Pick disease after enzyme replacement therapy with olipudase alfa

In this study, in which Niemann pick patients were included, it was aimed to assess the effect of enzyme replacement therapy (ERT) on lipid parameters and inflammatory markers.

CTX

Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings

In this study reports two siblings who have cerebrotendinous xanthomatosis (CTX). The atypical biochemical presentation of these cases emphasizes the importance of a comprehensive investigation of patients with symptomatology consistent with CTX.

XLH

Hiding in plain sight: Gene panel and genetic markers reveal 26-year undiagnosed tumor-induced osteomalacia of the rib

This case study presents a 41-year-old female with FGF23-mediated hypophosphatemia, with a 26-year delay in TIO (tumor-induced osteomalacia) diagnosis and a concurrent misdiagnosis of X-linked hypophosphatemic rickets (XLH). The study emphasizes the importance of innovative methods for clinicians, such as gene panels, CISH, and RNA sequencing, in characterizing TIO and associated tumors in the form of many phenotypically similar diseases.

NIEMANN-PICK

Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

A multicentre, prospective observational study was conducted to characterize and measure NPC disease progression and to investigate potential NPC-related biomarkers versus healthy individuals.