"Biochemical Markers" search results...

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

POMPE

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature

2021-05-01

This study reports the effects of higher recombinant human acid-α glucosidase (rhGAA) dosing regimen on clinical outcomes, efficacy, and safety profile in patients with IPD and early-onset LOPD. It is shown that in early-onset Pompe disease, higher rhGAA doses are safe, and improve gross motor outcomes, lingual ability, pulmonary function tests, and biochemical markers.

ASMD

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers

2020-05-15

In this review, clinically important endpoints as well as biochemical and imaging markers of ASMD are discussed and potential new biomarkers are identified.

FABRY

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

2019-08-01

This article emphasizes the importance of early diagnosis and treatment of Fabry disease for preventing organ damage, morbidity, and premature mortality in adulthood.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

POMPE

Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening

POMPE

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature

ASMD

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers

FABRY

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

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