Publications:

Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.

Journal Of Inherited Metabolic Disease

van der Meijden, Jan C JC; Kruijshaar, Michelle E ME; Harlaar, Laurike L; Rizopoulos, Dimitris D; van der Beek, Nadine A M E NAME; van der Ploeg, Ans T AT

Publication Date: 2018-11

Variant appearance in text: ATS: 877G>A

PubMed Link: 29556838

Variant Present in the following documents:

• Main text
• 10545_2018_Article_166.pdf

View BVdb publication page