Rare Diseases

Current bibliography for experts

"Metabolic Disease" search results...

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.

GAUCHER

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: Our first 3720 patients

2022-09-30

The aim of this study is to present our experience using a multiomic approach, which integrates genetic and biochemical testing as a first-line diagnostic tool for patients with inherited metabolic disorders (IMDs).

GAUCHER

Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case

2022-06-15

Misdiagnosis and diagnostic delay in metabolic diseases could cause irreversible organ damage and delay the start of specific therapy for these patients.

GAUCHER

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report

2022-05-12

This report highlights the necessity of screening the Tunisian population for the rare p.Arg87Trp variant.

ASMD

Acid Sphingomyelinase, a Lysosomal and Secretory Phospholipase C, Is Key for Cellular Phospholipid Catabolism

2021-08-20

In this article, the biochemical characteristics of acid sphingomyelinase (ASM), their potential effect on cellular lipid turnover, as well as a potential impact on physiological processes are discussed.

CTX

Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review

2020-11-06

This article is a case study that includes a Chinese family with Cerebrotendinous xanthomatosis (CTX) which had one patient and four heterozygous carriers. The clinical, biological, radiological, and genetic characteristics of CTX are summarized in order to aid in early detection and treatment. This study emphasizes that genetic analysis of the CYP27A1 gene should be the gold standard for CTX diagnosis.

FABRY

Diagnosis and Screening of Patients with Fabry Disease

2020-06-22

The aim of this review was to provide an update on diagnosis and screening of patients with Fabry disease (FD).

GAUCHER

Endocrine and metabolic disorders in patients with Gaucher disease type 1: A review

2019-12-02

Gaucher disease (GD) is associated to a variety of hormonal and metabolic abnormalities, like nutritional problems, glucose metabolism disorders, and vitamin D deficiency. In order to improve healthcare for GD1 patients, it is necessary to actively search for and diagnose endocrine and metabolic disorders.

MPS

Unique medical issues in adult patients with mucopolysaccharidoses

2016-10-01

In this article, the distinctive pattern of medical difficulties and multi-organ involvement seen in adult patients with mucopolysaccharidosis (MPS) is highlighted, as well as the obstacles that come with MPS management.

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