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2 research outputs found
PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations
Author
A Davit-Spraul
A Roscher
+38Â more
AO Johnson
B Burwinkel
Ben Kang
C Carriere
Chang-Seok Ki
CK Lau
F Hidaka
FO Desmet
H Hirono
HY Xiong
Hyung-Doo Park
IE Berg van den
J Goldstein
J Hendrickx
JA Kim
Jong-Won Kim
Junghan Song
JW Kim
K Ban
KJ Park
LA Tsilianidis
LM Brown
M Tuchman
MJ Song
NJ Beauchamp
PS Kishnani
PS Tarpey
PS Thornton
Rihwa Choi
RJ Brushia
S Achouitar
So Yoon Choi
Soo-Youn Lee
SY Cho
T Fukao
YJ Jeong
Yon Ho Choe
YS Shin
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
Full text link
Crossref
A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review
Author
A Roscher
AJ Maichele
+13Â more
B Provost
CK Lau
J Hendrickx
J Hendrickx
J Zhang
JA Kim
JJ Davidson
Junling Fu
LA Tsilianidis
NJ Beauchamp
ST Chen
Tong Wang
Xinhua Xiao
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
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