Work

Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience

Year: 2025

Type: article

Source: Genetics in Medicine

DOI: 10.1016/j.gim.2025.101590

Authors: Neha Regmi, Daniel Kenney-Jung, Grace Stafford, Michael Malinzak, Gail A. Spiridigliozzi, Tracy Boggs, Rebecca L. Koch, Phillip Brian Smith, Laura E. Case, Sarah P. Young, Harrison N. Jones, Priya S. Kishnani

Institutions: Duke University, Duke Medical Center, Johns Hopkins University, Duke University Health System

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Sanofi, Amicus Therapeutics, Sanofi Genzyme, National Institute of General Medical Sciences

Award: Medical Genetics Training Grant

OpenAlex ID: W4414578926

FWCI: 3.166

Cites: 44

Cited by: 5

Related to: 10