"Hypotonia" 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.

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.

POMPE

Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment

2022-03-09

Careful evaluation of common pediatric presentations, which may be an indication of serious underlying pathologies, is of great importance.

POMPE

Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening

2022-01-04

The aim of this study was to determine the outcomes of patients with later-onset Pompe disease (LOPD) identified through newborn screening (NBS).

POMPE

To detect potential pathways and target genes in infantile Pompe patients using computational analysis Bioimpacts

2022-01-01

In this study, the determination of key genes involved in the response to ERT for Pompe disease and potential molecular mechanisms were investigated.

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.

POMPE

A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report

2020-07-15

Early diagnosis and early treatment with enzyme replacement therapy (ERT), especially in the neonatal period, is of great importance to improve cardiac function and motor development in infantile-onset Pompe disease (PD).

POMPE

Infantile-onset Pompe disease: Diagnosis and Management

2019-08-01

This study updates the available clinical and diagnostic data about Pompe disease. The benefits and side effects of existing treatments and new therapeutic research are also reviewed.

POMPE

Multisystem late onset Pompe disease (LOPD): An update on clinical aspects

2019-07-01

Although Pompe disease was once thought to be predominantly a muscle disorder, it is now obvious that there is involvement of multiple other organs. Great efforts have been made for clarifying the clinical aspects of Pompe disease, raising awareness of the challenges that LOPD patients face, and improving their quality of life.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

POMPE

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

NIEMANN-PICK

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

POMPE

Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment

POMPE

Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening

POMPE

To detect potential pathways and target genes in infantile Pompe patients using computational analysis Bioimpacts

POMPE

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

POMPE

A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report

POMPE

Infantile-onset Pompe disease: Diagnosis and Management

POMPE

Multisystem late onset Pompe disease (LOPD): An update on clinical aspects

News and Events

ASHG 2025

ESHG - Avrupa İnsan Genetiği Konferansı 2025

World Orphan Drug Congress 2025

Gene2info provides genetic diagnoce service for 23 of rare diseases