Rare Diseases

Current bibliography for experts

"Classification" search results...

POMPE

Development of a clinically validated in vitro functional assay to assess the pathogenicity of novel GAA variants in patients with Pompe disease

2022-09-30

There is an unmet need for validated functional studies to aid in classification of GAA variants.

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

Lysosomal functions and dysfunctions: Molecular and cellular mechanisms underlying Gaucher disease and its association with Parkinson disease

2022-08-01

he present review will elaborate on the biology of Gaucher disease (GD), its association with Parkinson's disease (PD) and related disorders, and discuss the possible mechanisms underlying this association.

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

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

2022-05-01

In this review, the challenges are investigated which physicians face in the diagnosis and management of Gaucher disease in pediatric patients.

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.

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.

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.

POMPE

Molecular genetics of Pompe disease: A comprehensive overview

2019-07-01

To date, 582 mutations have been reported across the entire GAA gene which cause Pompe disease (PD). The data gathered in this review gives an overview of the molecular genetics of PD and can be used to help with diagnosis and genetic counselling of families who are affected by this disorder.

LIPODISTROFI

Type 1 familial partial lipodystrophy: Understanding the Köbberling syndrome

2016-11-01

This case-controlled study aimed to characterize this syndrome better by evaluating a group of women with phenotypic features of type 1 familial partial lipodystrophy.

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