PubRank

Xuefan Gu

Author PubWeight™ 22.64‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med 2011 3.21
2 Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China. J Inherit Metab Dis 2010 0.94
3 Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease. J Lipid Res 2013 0.94
4 Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance. Acta Paediatr 2009 0.94
5 Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing. PLoS One 2011 0.90
6 Phenylalanine activates the mitochondria-mediated apoptosis through the RhoA/Rho-associated kinase pathway in cortical neurons. Eur J Neurosci 2007 0.87
7 Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population. Gene 2013 0.86
8 Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome. Eur J Med Genet 2011 0.86
9 Rapidly rising incidence of childhood type 1 diabetes in Chinese population: epidemiology in Shanghai during 1997-2011. Acta Diabetol 2014 0.86
10 Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations. Pediatr Res 2010 0.85
11 Reference ranges for serum IGF-1 and IGFBP-3 levels in Chinese children during childhood and adolescence. Endocr J 2010 0.85
12 Effects of phenylalanine on the survival and neurite outgrowth of rat cortical neurons in primary cultures: possible involvement of brain-derived neurotrophic factor. Mol Cell Biochem 2010 0.84
13 Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease. Orphanet J Rare Dis 2013 0.84
14 Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study. J Inherit Metab Dis 2012 0.82
15 Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients. Orphanet J Rare Dis 2014 0.80
16 Phenylketonuria-related synaptic changes in a BTBR-Pah(enu2) mouse model. Neuroreport 2011 0.80
17 Elevated bile acids in newborns with Biliary Atresia (BA). PLoS One 2012 0.80
18 The expression and phosphorylation of acid sensing ion channel 1a in the brain of a mouse model of phenylketonuria. Int J Neurosci 2011 0.78
19 Two novel mutations of the arylsulfatase B gene in a Chinese MPS VI child undergoing bone marrow transplantation therapy. Clin Chim Acta 2006 0.78
20 Impaired glucose tolerance in a mouse model of sidt2 deficiency. PLoS One 2013 0.78
21 Analysis of gene mutations in Chinese patients with maple syrup urine disease. Mol Genet Metab 2012 0.78
22 Spectrum analysis of common inherited metabolic diseases in Chinese patients screened and diagnosed by tandem mass spectrometry. J Clin Lab Anal 2014 0.77
23 [Treatment of 2 children with mucopolysaccharidosis by allogeneic hematopoietic stem cell transplantation]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 0.76
24 Differential effects of phenylalanine on Rac1, Cdc42, and RhoA expression and activity in cultured cortical neurons. Pediatr Res 2007 0.76
25 Mechanisms regulating superoxide generation in experimental models of phenylketonuria: an essential role of NADPH oxidase. Mol Genet Metab 2011 0.75
26 Comparative evaluation of short-term biomarker response to treatment for growth hormone deficiency in Chinese children with growth hormone deficiency born small for or appropriate for gestational age: a randomized phase IV open-label study. Ther Adv Endocrinol Metab 2013 0.75
27 A large deletion of PROP1 gene in patients with combined pituitary hormone deficiency from two unrelated Chinese pedigrees. Horm Res Paediatr 2010 0.75
28 Recurring G12S mutation of HRAS in a Chinese child with Costello syndrome with high alkaline phosphatase level. Biochem Genet 2009 0.75
29 [Reinforcement of the diagnosis and treatment of hyperphenylalaninemia and prognostic study]. Zhonghua Er Ke Za Zhi 2014 0.75
30 NOX, the main regulator in oxidative stress in experimental models of phenylketonuria? J Pediatr Endocrinol Metab 2013 0.75
31 [Analysis of copy number variations in 66 children with unexplained mental retardation/developmental delay using chromosomal microarrays]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2014 0.75
32 A method of chemiluminescence coupled with ultrafiltration for investigating the interaction between ibuprofen and human serum albumin. Luminescence 2012 0.75
33 Application of liquid chromatography-tandem mass spectrometry in the diagnosis and follow-up of maple syrup urine disease in a Chinese population. J Pediatr Endocrinol Metab 2013 0.75
34 Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region. Mol Genet Metab 2012 0.75
35 Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease. Brain Dev 2010 0.75
36 One-step method for plasma determination of ibuprofen by chemiluminescence-coupled ultrafiltration and application in a pharmacokinetic study. Luminescence 2011 0.75
37 Rapid detection of glycogen storage disease type Ia by DNA microarray. Clin Chem Lab Med 2010 0.75
38 [Analysis of the MUT gene mutations in patients with methylmalonic acidemia]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009 0.75
39 [Molecular and prenatal diagnosis of a family with Fanconi anemia by next generation sequencing]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2015 0.75
40 Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. Chin Med J (Engl) 2002 0.75