1. A novel PHKA2 variant in a Japanese boy with glycogen storage diseases type IXa. Issue 1 (27th November 2021) Authors: Mori, Toshihiko; Ishikawa, Aki; Shigetomi, Hiroko; Fukuda, Tokiko; Sugie, Hideo Journal: Pediatrics international Issue: Volume 64:Issue 1(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A primigravida with very‐long‐chain acyl‐CoA dehydrogenase deficiency. Issue 2 (February 2014) Authors: Murata, Ken‐ya; Sugie, Hideo; Nishino, Ichizo; Kondo, Tomoyoshi; Ito, Hidefumi Journal: Muscle & nerve Issue: Volume 49:Issue 2(2014:Feb.) Page Start: 295 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia. Issue 1 (28th May 2019) Authors: Ago, Yasuhiko; Sugie, Hideo; Fukuda, Tokiko; Otsuka, Hiroki; Sasai, Hideo; Nakama, Mina; Abdelkreem, Elsayed; Fukao, Toshiyuki Journal: JIMD reports Issue: Volume 48:Issue 1(2019) Page Start: 15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Muscle biochemical and pathological diagnosis in Pompe disease. Issue 11 (25th April 2022) Authors: Saito, Yoshihiko; Nakamura, Kimitoshi; Fukuda, Tokiko; Sugie, Hideo; Hayashi, Shinichiro; Noguchi, Satoru; Nishino, Ichizo Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 11(2022) Page Start: 1142 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗