Rare Diseases

Current bibliography for experts

"Genetic Analysis" search results...

CTX

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

2022-09-26

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

NIEMANN-PICK

Niemann-Pick type A disease with new mutation: A case report

2022-07-27

This presentation describes a 1-year-old boy with neurodevelopmental delay, hepatosplenomegaly, and severe hypotonia.

GAUCHER

Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene

2022-07-06

This study highlights the importance of accurate GBA analysis in Gaucher and Parkinson’s disease patients.

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.

CTX

A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene

2022-05-01

This case report emphasizes the necessity of keeping a high index of suspicion as the key to a timely diagnosis of cerebrotendinous xanthomatosis (CTX), which has a clinical diversity and, if detected early, the favorable treatment response.

NMDS

Novel compound heterozygous mutations in the TTN gene

2022-05-01

This study reports the first identification of an elongation mutation in the TTN gene, broadening the genetic mutation spectrum of LGMD2J.

XLH

Genetic analysis combined with 3D-printing assistant surgery in diagnosis and treatment for an X-linked hypophosphatemia patient

2022-03-01

This study identifies a novel PHEX variant and shows that 3D printing tech is a very promising approach for corrective osteotomies.

XLH

Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia

2022-02-17

This study's genetic and functional investigations revealed a novel genetic cause of XLH: The heterozygous mutation of PHEX (NM 000444.5: c.1768G > A).

POMPE

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

2022-01-15

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.

LIPODISTROFI

Molecular and Cellular Bases of Lipodystrophy Syndromes

2022-01-03

In this study, the links between lipodystrophy and premature ageing and/or immuno-inflammatory aggressions of adipose tissue, as well as the relationships between lipomatosis and lipodystrophy are discussed.

ALFA-MANNOSIDOZ

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

2021-10-06

This article presents the clinical and genetic study of six patients from two Tunisian families with alpha-mannosidosis.

POMPE

Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

2021-05-21

The aim of this study was to identify genetic variations and clinical features in Spanish subjects to establish genotype-phenotype correlation.

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