"Sanger Sequencing" search results...

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.

GAUCHER

Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene

2023-01-01

This report provides the precious experience of the clinical presentation of perinatal lethal Gaucher disease (PLGD) and advice on reproductive medicine for the next pregnancy in a couple.

PHEX

A Novel Synonymous Variant of PHEX in a Patient with X-Linked Hypophosphatemia

2022-12-01

This study extends the genetic spectrum of XLH and confirms the rarity and significance of synonymous PHEX variants.

XLH

A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia

2022-09-28

This article presents a family with X-linked hypophosphatemia (XLH) due to a novel synonymous PHEX variant with a unique mechanism.

MPS

Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants

2022-09-01

This study presents the status of variant alleles and biochemistry results found in infants suspected of having MPS I, II, IVA, and VI.

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.

XLH

Two de novo mosaic variants within the same site of PHEX gene in a girl with X-linked hypophosphatemic rickets

2022-02-01

This is the first time two different mosaic variants of the PHEX gene have been found in an XLH individual.

MPS

Molecular characterization of a large cohort of mucopolysaccharidosis patients

2022-01-10

This extensive patient cohort reveals the genetic and geographic landscape of mucopolysaccharidosis (MPS) in Iran, which provides insight into genetic epidemiology of MPS and can facilitate a more cost-effective, time-efficient diagnostic approach based on the region-specific variants.

FABRY

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing

2021-11-16

Long-read Oxford Nanopore sequencing technology can be used as an efficient and cost-effective tool for screening and diagnosing Fabry disease.

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.

CSID

Congenital Sucrase-Isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization

2017-05-01

The novel compound heterozygote V577G/C1531W SI mutations lead to lack of SI expression in the duodenal brush border, confirming the diagnosis of CSID.

Rare Diseases

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