"Genotype-phenotype Correlation" search results...

MPS

Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study

2023-06-01

This study aimed to characterize the clinical characteristics and genotypes of the largest cohort of Chinese patients with mucopolysaccharidosis type II (MPS II).

GAUCHER

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

2022-07-08

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.

MPS

Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA

2022-02-25

Based on the data this study reported, a systematic flowchart was generated correlating the GALNS variants to assist in phenotype prediction and classification of patients with MPS IVA.

MPS

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants

2021-08-13

Mutation updates are essential for the correct molecular diagnoses, genetic counseling, prenatal and preimplantation diagnosis, and disease management.

GAUCHER

Gaucher disease: Identification and novel variants in Mexican and Spanish patients

2021-06-13

Because molecular diagnosis has a high predictive value in GD, it's crucial to look into the genotype-phenotype correlations and determine the severity of the variant.

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.

NIEMANN-PICK

Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B

2021-05-05

This study contributes to the understanding of the natural history of NPA/B and assists in the development of efficacious treatments for patients afflicted with this devastating lysosomal storage disorder.

POMPE

Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

2021-03-31

This study emphasizes the multisystem nature of late-onset type of Pompe disease (LOPD) and highlights the polygenic nature of the complex phenotype disclosed in these patients.

FABRY

A consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup

2020-08-01

This study aimed to find a consensus phenotypic classification for previously unclassified GLA variants by using the GLA-specific fabry-database.org database. Clinical pathogenicity associated with a particular GLA variant defined in affected males appears to have predictive value and also generally correlates with risk for affected females. The newly developed classifications can aid in the clinical management of Fabry patients who have these variants.

POMPE

Newborn Screening for Pompe Disease

2020-04-05

Newborn screening (NBS) is the most effective method for detecting and treating Pompe Disease (PD) early on. On the other hand, current NBS systems are unable to distinguish between pseudodeficiency and cases with PD or potential PD. Therefore, a combination of GAA gene analysis with NBS is needed for definitive PD diagnoses.

CLN2

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

2019-11-01

Effective CLN2 disease management requires early diagnosis. This article updates on the spectrum of TPP1 variants associated with CLN2 disease.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

MPS

Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study

GAUCHER

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

MPS

Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA

MPS

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants

GAUCHER

Gaucher disease: Identification and novel variants in Mexican and Spanish patients

POMPE

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

NIEMANN-PICK

Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B

POMPE

Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

FABRY

A consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup

POMPE

Newborn Screening for Pompe Disease

CLN2

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

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