Search results for: Xue Fan Gu

Items from 1 to 11 out of 11 results

article

Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia

Pei-Zhong Bao, Jun Ye, Lian-Shu Han, Wen-Juan Qiu, more

World Journal of Pediatrics > 2019 > 15 > 1 > 66-71

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 deficiency (PTPSD) and improve the accuracy of diagnosis. Methods We compared the urine neopterin (N), biopterin (B), isoxanthopterin (Iso), B% and Iso% levels between patients with phenylalanine...

article

Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia

Lian-Shu Han, Zhuo Huang, Feng Han, Yu Wang, more

World Journal of Pediatrics > 2017 > 13 > 4 > 381-386

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 missense mutations in MUT in Chinese patients affect the stability and enzymatic activity of MCM. Methods Eight Chinese patients were identified with novel mutations. Plasmids carrying the...

article

Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants

Lian-Shu Han, Zhuo Huang, Feng Han, Jun Ye, more

World Journal of Pediatrics > 2015 > 11 > 4 > 358-365

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 were diagnosed with isolated MMA by elevated blood propionylcarnitine, propionylcarnitine to acetylcarnitine ratio, and urine methylmalonate without hyperhomocysteinemia...

article

Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy

Shan-Shan Chu, Jun Ye, Hui-Wen Zhang, Lian-Shu Han, more

World Journal of Pediatrics > 2015 > 11 > 4 > 366-373

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 25 patients with X-ALD including members of large pedigrees, to analyze ABCD1 gene mutations, the effect of gene novel variants on ALD protein (ALDP)...

article

The oxidative molecular regulation mechanism of NOX in children with phenylketonuria

Ying-Zhong He, Xue-Fan Gu, Li-Hua Lu, Li-Li Liang

International Journal of Developmental Neuroscience > 2014 > 38 > Complete > 178-183

Phenylketonuria (PKU) is the most frequent inherited disorder of amino acid metabolism. In our previous work, we investigated the role of NADPH oxidase (NOX) in a Pahenu2-BTBR PKU mouse model, and an in vitro cell culture model of PKU. In the current study, we evaluated various oxidative stress parameters, namely total antioxidant capacity (T-AOC), glutathione (GSH) and maleic dialdehyde (MDA) in...

article

Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency

Rui-Nan Zhang, Yi-Fan Li, Wen-Juan Qiu, Jun Ye, more

World Journal of Pediatrics > 2014 > 10 > 2 > 119-125

Background Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) is an inherited metabolic disease caused by deleterious mutations in the ACADVL gene that encodes very long chain acyl-CoA dehydrogenase (VLCAD), and which can present as cardiomyopathy in neonates, as hypoketotic hypoglycemia in infancy, and as myopathy in late-onset patients. Although many ACADVL mutations have been described,...

article

QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency

De-Yun Lu, Jun Ye, Lian-Shu Han, Wen-Juan Qiu, more

World Journal of Pediatrics > 2014 > 10 > 3 > 219-226

Background This study aimed to investigate the mutation spectrum of the QDPR gene, to determine the effect of mutations on dihydropteridine reductase (DHPR) structure/function, to discuss the potential genotypephenotype correlation, and to evaluate the clinical outcome of Chinese patients after treatment. Methods Nine DHPR-deficient patients were enrolled in this study and seven of them underwent...

article

Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis

Hong-Lin Lei, Jun Ye, Wen-Juan Qiu, Hui-Wen Zhang, more

World Journal of Pediatrics > 2012 > 8 > 4 > 359-362

Background This paper aims to report GLB1 activities and mutation analysis of three patients from the mainland of China, one with Morquio B disease and two with GM1 gangliosidosis. Methods GLB1 activity and GLB1 gene mutation were analyzed in the three patients who were clinically suspected of having Morquio B disease or GM1 gangliosidosis. Novel mutations were analyzed by aligning GLB1 homologs,...

article

A Study of Gene Expression Profiles of Cultured Embryonic Rat Neurons Induced by Phenylalanine

Huiwen Zhang, Xue Fan Gu

Metabolic Brain Disease > 2005 > 20 > 1 > 61-72

To have more insight into the mechanism of neuronal injury in phenylketonuria (PKU) patients, gene expression profiles were studied in cell culture of embryonic rat cortical neurons induced by phenylalanine. Randomly chose cortical cultured for 3 days were treated by 0.9-mM phenylalanine for 12 h. Control group of the same batch was treated with the same volume of medium. Total RNA was extracted and...

article

Laboratory investigation of shaft resistance for piles socketed in basalt

Xue Fan Gu, C.M. Haberfield

International Journal of Rock Mechanics and Mining Sciences > 2004 > 41 > 3 > 465

article

A simple strategy to amplify specifically the HLA-DQβ gene region with genomic DNA as template

Xue Fan Gu, Jacques Elion, Malika Ouagued, Eric Clauser, more

FEBS Letters > 1988 > 236 > 1 > 23-26

The nature of codon 57 in the HLA-DQβ gene was recently reported as a potential marker of genetic susceptibility to insulin-dependent diabetes mellitus. When exploring the relevance of this marker by using genomic DNA amplification, we encountered difficulties resulting from the coamplification of the homologous DXβ region. A simple strategy is proposed to amplify the DQβ region exclusively. It involves...

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Keywords

METHYLMALONIC ACIDEMIA (2)
MISSENSE MUTATION (2)
MUTATION (2)
MUT GENE (1)
6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE (1)
ABCD1 PROTEIN (1)
ADRENOLEUKODYSTROPHY (1)
ADRENOLEUKODYSTROPHY PROTEIN (1)
CHILDREN (1)
DIHYDROPTERIDINE REDUCTASE (1)
ENZYME ASSAYS (1)
FOLLOW-UP (1)
GENE CHIP (1)
GM1 GANGLIOSIDOSIS (1)
HLA-DQΒ LOCUS (1)
HLA-DXΒ LOCUS (1)
HYPERPHENYLALANINAEMIA (1)
HYPERPHENYLALANINEMIA (1)
INSULIN-DEPENDENT DIABETES MELLITUS (1)
ISOXANTHOPTERIN (1)
METHYLMALONIC ACID (1)
METHYLMALONYL-COA MUTATION (1)
MISSENSE VARIANT (1)
MORQUIO B DISEASE (1)
MUTATION ANALYSIS (1)
NEURON INJURY (1)
NOX (1)
OXIDATIVE STRESS (1)
PHENYLALANINE HYDROXYLASE (1)
PHENYLKETONURIA (1)
PHENYLKETONURIA (PKU) (1)
POLYMERASE CHAIN REACTION (1)
PTERIN (1)
SUPEROXIDE (1)
TETRAHYDROBIOPTERIN (1)
TREATMENT (1)
VERY LONG CHAIN ACYL-COA DEHYDROGENASE (1)
VLCAD DEFICIENCY (1)
Β-GALACTOSIDASE (1)
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Springer (8)
Elsevier (3)

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Search results for: Xue Fan Gu

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