"Newborn" search results...

This study indicates that the use of enzyme assay as the first-tier test gives an acceptably low number of positive results that requires second/third tier testing.

POMPE

Newborn screening for Pompe disease in Italy: Long-term results and future challenges

2022-10-22

This study presents the results from 7 years of newborn screening (NBS) for Pompe disease (PD) and the management of infantile-onset (IOPD) and late-onset (LOPD) patients.

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.

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.

POMPE

Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening

2022-03-01

Careful physical therapy evaluation is necessary to monitor for subtle musculoskeletal signs that may reflect early muscle involvement in late onset Pompe disease patients.

GAUCHER

Newborn screening for Gaucher disease in Japan

2022-02-18

The prevalence of Gaucher disease (GD) using newborn screening (NBS) was 1 in 77,720 in Japan, which was higher than previously estimated frequency.

NIEMANN-PICK

Clinical disease characteristics of patients with NiemannPick Disease Type C

2022-02-14

The collection of on-going large-scale Niemann-Pick Disease Type C (NPC) clinical data may generate better understandings of the natural history of the disease. This study reports NPC patient data from the International Niemann-Pick Disease Registry (INPDR).

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).

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

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

2021-06-27

This study is the largest reported to date in Europe and presents data from long-term NBS for Fabry disease (FD) that reveals the current incidence of FD in northeastern Italy

POMPE

Phenotypic Implications of Pathogenic Variant Types in Pompe Disease

2021-05-11

In Pompe disease, it is crucial to figure out whether enzyme activity or the type of pathogenic genetic variant in GAA best predicts phenotypic severity. Complete genetic, cardiac, and neurological examinations are critical for newly identified Pompe disease patients.

FABRY

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

2021-04-09

In this review, the problems faced in the family genetic screening of patients affected with rare genetic diseases are highlighted by an international group of experts of Fabry disease. These problems include related costs, low awareness of its importance, cultural and societal issues, educational levels of the population, national geography and infrastructure, and a lack of medical geneticists.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

XLSD

Pilot study of newborn screening for six lysosomal diseases in Brazil

POMPE

Newborn screening for Pompe disease in Italy: Long-term results and future challenges

POMPE

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

MPS

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

POMPE

Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening

GAUCHER

Newborn screening for Gaucher disease in Japan

NIEMANN-PICK

Clinical disease characteristics of patients with NiemannPick Disease Type C

POMPE

Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening

MPS

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

FABRY

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

POMPE

Phenotypic Implications of Pathogenic Variant Types in Pompe Disease

FABRY

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

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