Classic Infantile Onset Pompe Disease - Neonatal Disorders

Relevant Publications

Evaluating avalglucosidase alfa for the management of late-onset Pompe disease.

Issue Release: 2024

[Juvenile Pompe disease: Undescribed genotype. First report in Quintana Roo].

Issue Release: 2024

Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study.

Issue Release: 2023

Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study.

Issue Release: 2022

Infantile Pompe disease with intrauterine onset: a case report and literature review.

Issue Release: 2022

Is the brain involved in patients with late-onset Pompe disease?

Issue Release: 2022

Infantile-onset Pompe disease in seven Mexican children.

Issue Release: 2022

[Pompe Disease: Extraordinary Measures].

Issue Release: 2022

Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme.

Issue Release: 2022

Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel.

Issue Release: 2022

Multisystem presentation of Late Onset Pompe Disease: what every consulting neurologist should know.

Issue Release: 2022

The Clinical Management of Pompe Disease: A Pediatric Perspective.

Issue Release: 2022

Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: a cohort description.

Issue Release: 2022

Diffusion tensor imaging of the brain in Pompe disease.

Issue Release: 2022

Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.

Issue Release: 2021

Phenotypic implications of pathogenic variant types in Pompe disease.

Issue Release: 2021

Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.

Issue Release: 2021

Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease.

Issue Release: 2020

Cardiovascular disease in non-classic Pompe disease: A systematic review.

Issue Release: 2020

Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement.

Issue Release: 2020

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