Current status of newborn screening for Pompe disease in Japan.

Takaaki SawadaJun KidoKeishin SugawaraKen MomosakiShinichiro YoshidaKanako Kojima-IshiiTakahito InoueShirou MatsumotoFumio EndoShouichi OhgaShinichi HiroseKimitoshi Nakamura

Published in: Orphanet journal of rare diseases (2021)

The frequency of IOPD in Japan was similar to that in the United States, where NBS for Pompe disease is recommended. This indicates that NBS for Pompe disease may also be useful in Japan. Therefore, it should be used over a wider region in Japan.

Keyphrases

late onset
replacement therapy
current status
early onset