共 50 条
- [31] Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIIdJOURNAL OF INHERITED METABOLIC DISEASE, 2001, 24 (05) : 535 - 545Sugie, HFukuda, TIto, MSugie, YKojoh, TNonaka, I
- [32] THE USE OF THE KETOGENIC DIET IN A METABOLIC PATIENT WITH GLYCOGEN STORAGE DISEASE TYPE IIIAARCHIVES OF DISEASE IN CHILDHOOD, 2019, 104 : A123 - A124Merrigan, ChristinePurcell, OrlaForbes, EimearMc Nulty, JennyLally, EmmaCrushell, Ellen
- [33] NEW CLINICAL AND GENETIC PROFILES OF GLYCOGEN STORAGE DISEASE TYPE IIIa IN A CHINESE FAMILYJOURNAL OF HEPATOLOGY, 2013, 58 : S565 - S566Li, X. -H.Gong, Q. -M.Gu, L. -L.Yu, D. -M.Han, Y.Zhang, X. -X.
- [34] Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)ANIMALS, 2023, 13 (08):Rakib, Tofazzal MdIslam, Md ShafiqulTanaka, ShigekiYabuki, AkiraPervin, ShahnajMaki, ShinichiroAl Faruq, AbdullahTacharina, Martia RaniYamato, Osamu
- [35] Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 GeneCASE REPORTS IN PEDIATRICS, 2020, 2020Khan, Hamza HassanParr, LaurenJay, AllisonRaza, SaleemLyons, HernandoKumar, Sanjay
- [36] Detection of a Novel Mutation in the GAA Gene in an Iranian Child with Glycogen Storage Disease Type IIARCHIVES OF IRANIAN MEDICINE, 2013, 16 (02) : 126 - 128Galehdari, HamidEmami, MozhganMohammadian, GholamrezaKhodadadi, AliAzmoon, SomayehBaradaran, Masumeh
- [37] A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type IIMOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (09):Liu, HaifengTao, NaWang, YanYang, YangHe, XiaoliZhang, YuZhou, YuantaoLiu, XiaoningFeng, XingxingSun, MeiyuanXu, FangSu, YanfangLi, Li
- [38] A novel splicing mutation in CLCNKB in a Chinese patient with Bartter syndrome type Ⅲ中华医学杂志（英文版）, 2010, (21) : 3151 - 3153DONG YanJI GangFENG QiwenZENG Xianting and JIANG Gengru Department of Endocrinology Department of NephrologyXinhua Hospital Shanghai Jiao Tong University School of MedicineShanghai China National Engineering Center for Biochip at ShanghaiShanghai China
- [40] A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe HypertriglyceridemiaFRONTIERS IN PEDIATRICS, 2021, 9Wang, FengyuWang, FengliZhou, XiaojunYi, YingjieZhao, Jie