Cui-Li Liang
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Explore the profile of Cui-Li Liang including associated specialties, affiliations and a list of published articles.
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Articles
6
Citations
16
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0
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Recent Articles
1.
Shao Y, Liang C, Su Y, Lin Y, Lu Z, Lin R, et al.
Orphanet J Rare Dis
. 2024 Apr;
19(1):155.
PMID: 38605407
Background: Glycogen storage disease type Ib (GSD Ib) is a rare disorder characterized by impaired glucose homeostasis caused by mutations in the SLC37A4 gene. It is a severe inherited metabolic...
2.
Liang C, Liu G, Cheng J, Niu H, Fu W, Zhang L, et al.
Zhongguo Dang Dai Er Ke Za Zhi
. 2024 Mar;
26(2):158-163.
PMID: 38436313
Objectives: To investigate the value of the human chorionic gonadotropin (hCG) stimulation test in the diagnosis of disorder of sexual development (DSD) in children. Methods: A retrospective analysis was conducted...
3.
Jiang M, Cai Y, Liang C, Peng M, Sheng H, Fan L, et al.
Metab Brain Dis
. 2015 Aug;
30(6):1439-44.
PMID: 26260157
X-linked adrenoleukodystrophy is a common X-linked recessive peroxisomal disorder caused by the mutations in the ABCD1 gene. In this study, we analyzed 19 male patients and 9 female carriers with...
4.
Jiang H, Jiang M, Liu S, Cai Y, Liang C, Liu L
Pediatr Neurol
. 2015 Jun;
53(2):163-5.e1.
PMID: 26088837
Background: Childhood cerebral X-linked adrenoleukodystrophy is a rapidly progressive neurodegenerative disorder that affects central nervous system myelin and the adrenal cortex. Hematopoietic stem cell transplantation is the best available curative...
5.
Cai Y, Jiang M, Liang C, Peng M, Cheng J, Sheng H, et al.
J Pediatr Endocrinol Metab
. 2014 Nov;
28(5-6):725-9.
PMID: 25423669
Background: X-linked adrenoleukodystrophy (X-ALD) (OMIM: 300100) is a recessive neurodegenerative disorder caused by defects in the ABCD1 gene on chromosome Xq28. Childhood cerebral ALD (CCALD) is the most frequent phenotype....
6.
Liang C, Liu L, Sheng H, Jiang M, Yin X, Mei H, et al.
Zhongguo Dang Dai Er Ke Za Zhi
. 2013 Aug;
15(8):661-5.
PMID: 23965881
Objective: Glycogen storage disease type Ib (GSDIb) is caused by a deficiency of glucose-6-phosphate translocase (G6PT) activity due to SLC37A4 gene mutations. Most GSDIb patients have recurrent infections and inflammatory...