Xue-Fan Gu
Overview
Explore the profile of Xue-Fan Gu including associated specialties, affiliations and a list of published articles.
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Articles
78
Citations
265
Followers
0
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Recent Articles
1.
Wu S, E H, Yu Y, Ling S, Liang L, Qiu W, et al.
World J Pediatr
. 2023 Dec;
20(8):848-858.
PMID: 38070096
Background: The aim of this study was to characterize the variable phenotypes and outcomes associated with the methylmalonic aciduria and homocystinuria type C protein gene (MMACHC) c.482G > A mutation...
2.
Tong F, Wang J, Xiao R, Wu B, Zou C, Wu D, et al.
World J Pediatr
. 2022 Mar;
18(4):235-242.
PMID: 35292922
No abstract available.
3.
Bao P, Ye J, Han L, Qiu W, Zhang H, Yu Y, et al.
World J Pediatr
. 2018 Nov;
15(1):66-71.
PMID: 30443829
Background: This study aimed to explore the value of applying a new pterin marker (isoxanthopterin) to the traditional urine pterin analysis to reduce the rate of mis-diagnosis of 6-pyruvoyltetrahydropterin synthase...
4.
Huang Z, Sun Y, Fan Y, Wang L, Liu H, Gong Z, et al.
Cell Physiol Biochem
. 2018 Aug;
49(1):295-305.
PMID: 30138938
Background/aims: The genetics of human height is a frequently studied and complex issue. However, there is limited genetic research of short stature. To uncover the subgroup of patients to have...
5.
Gao X, Huang Z, Fan Y, Sun Y, Liu H, Wang L, et al.
Cell Physiol Biochem
. 2018 Jul;
47(6):2388-2395.
PMID: 29991052
Background/aims: Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder classically characterized by distinctive facies, growth retardation, intellectual disability, feeding difficulties, and multiple organ system anomalies. Previously, the diagnosis...
6.
Wang Y, Ye J, Qiu W, Han L, Gao X, Liang L, et al.
Acta Pharmacol Sin
. 2018 Jun;
40(2):279-287.
PMID: 29872134
Mucolipidosis II α/β, mucolipidosis III α/β, and mucolipidosis III γ are autosomal recessive disorders belonging to the family of lysosomal storage disorders caused by deficiency of the UDP-N-acetylglucosamine, a lysosomal...
7.
Han L, Huang Z, Han F, Wang Y, Gong Z, Gu X
World J Pediatr
. 2017 Jan;
13(4):381-386.
PMID: 28101778
Background: Isolated methylmalonic acidemia is a rare autosomal recessive metabolic disorder mostly caused by mutations in the methylmalonyl coenzyme A mutase (MCM) gene (MUT). This study aimed to verify whether...
8.
Ye J, Qiu W, Han L, Zhang H, Gu X
Chin Med J (Engl)
. 2015 Nov;
128(21):2979-80.
PMID: 26521805
No abstract available.
9.
Chu S, Ye J, Zhang H, Han L, Qiu W, Gao X, et al.
World J Pediatr
. 2015 Oct;
11(4):366-73.
PMID: 26454440
Background: X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disease caused by mutations in the adenosine triphosphate-binding cassette D1 (ABCD1) gene. This study aimed to retrospectively investigate the clinical characteristics of...
10.
Han L, Huang Z, Han F, Ye J, Qiu W, Zhang H, et al.
World J Pediatr
. 2015 Oct;
11(4):358-65.
PMID: 26454439
Background: This study aims to study MUT gene mutation spectrum in Chinese patients with isolated methylmalonic academia (MMA) and their clinical features for the potential genotype-phenotype correlation. Methods: Forty-three patients...