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	21.	[Molecular genetic analysis of congenital lipoid adrenal hyperplasia]. [electronic resource] by Qiu, Wen-Juan Ye, Jun Han, Bei Han, Lian-Shu Gu, Xue-Fan Producer: 20100601 In: Zhonghua er ke za zhi = Chinese journal of pediatrics vol. 42 Availability: No items available. Save to lists Add to cart (remove)
	22.	[Study on mutations of exon 12 of the PAH gene in 127 phenylketonuria patients]. [electronic resource] by Qiu, Wen-juan Zhang, Ya-fen Ye, Jun Han, Lian-shu Gu, Xue-fan Producer: 20041007 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 21 Availability: No items available. Save to lists Add to cart (remove)
	23.	[Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test]. [electronic resource] by Zhang, Zhi-xin Ye, Jun Qiu, Wen-juan Han, Lian-shu Gu, Xue-fan Producer: 20100504 In: Zhonghua er ke za zhi = Chinese journal of pediatrics vol. 43 Availability: No items available. Save to lists Add to cart (remove)
	24.	Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant. [electronic resource] by Ye, Jun Qiu, Wen-Juan Han, Lian-Shu Zhang, Hui-Wen Gu, Xue-Fan Producer: 20160523 In: Chinese medical journal vol. 128 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	[Application of tandem mass spectrometry in diagnosis of organic acidemias]. [electronic resource] by Han, Lian-shu Gao, Xiao-lan Ye, Jun Qiu, Wen-juan Gu, Xue-fan Producer: 20100504 In: Zhonghua er ke za zhi = Chinese journal of pediatrics vol. 43 Availability: No items available. Save to lists Add to cart (remove)
	26.	[Tetrahydrobiopterin loading test in differential diagnosis among hyperphenylalaninemia patients]. [electronic resource] by Zhang, Zhi-xin Ye, Jun Qiu, Wen-juan Han, Lian-shu Gu, Xue-fan Producer: 20090319 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 22 Availability: No items available. Save to lists Add to cart (remove)
	27.	[Analysis of clinical manifestations and genetic mutations in a child with Laron syndrome]. [electronic resource] by Chang, Guo-ying Chen, Shao-ke Gu, Xue-fan Gong, Zhu-wen Zhang, Qi-gang Producer: 20140904 In: Zhonghua er ke za zhi = Chinese journal of pediatrics vol. 51 Availability: No items available. Save to lists Add to cart (remove)
	28.	Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. [electronic resource] by Han, Lian-Shu Huang, Zhuo Han, Feng Wang, Yu Gong, Zhu-Wen Gu, Xue-Fan Producer: 20180611 In: World journal of pediatrics : WJP vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	[Effect of phenylalanine on the Nogo-66 receptor expression in the cortical neurons of rats]. [electronic resource] by Huang, Cheng-Jiao Gu, Xue-Fan Zhang, Yong-Jun Ye, Jun Li, Duan Huang, Li-Su Producer: 20080701 In: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics vol. 10 Availability: No items available. Save to lists Add to cart (remove)
	30.	[Comparison and clinical application of two methods for determination of plasma chitotriosidase activity]. [electronic resource] by Wang, Yu Zhang, Hui-wen Ye, Jun Qiu, Wen-juan Han, Lian-shu Gu, Xue-fan Producer: 20131029 In: Zhonghua er ke za zhi = Chinese journal of pediatrics vol. 50 Availability: No items available. Save to lists Add to cart (remove)
	31.	[GLB1 gene mutation and clinical characteristics of a patient with mucopolysaccharidosis type IVB]. [electronic resource] by Lei, Hong-lin Ye, Jun Qiu, Wen-juan Zhang, Hui-wen Han, Lian-shu Gu, Xue-fan Producer: 20130404 In: Zhonghua er ke za zhi = Chinese journal of pediatrics vol. 50 Availability: No items available. Save to lists Add to cart (remove)
	32.	[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]. [electronic resource] by Gu, Xue-fan Han, Lian-shu Gao, Xiao-lan Yan, Yan-ling Ye, Jun Qiu, Wen-juan Producer: 20040909 In: Zhonghua er ke za zhi = Chinese journal of pediatrics vol. 42 Availability: No items available. Save to lists Add to cart (remove)
	33.	[Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency]. [electronic resource] by Gu, Mei-qing Ye, Jun Qiu, Wen-juan Han, Lian-shu Zhang, Ya-feng Gu, Xue-fan Producer: 20090728 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome. [electronic resource] by Gao, Xueren Huang, Zhuo Fan, Yanjie Sun, Yu Liu, Huili Wang, Lili Gu, Xue-Fan Yu, Yongguo Producer: 20180817 In: Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	[The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency]. [electronic resource] by Ye, Jun Qiu, Wen-juan Han, Lian-shu Zhou, Jian-de Gao, Xiao-lan Gu, Xue-fan Producer: 20090910 In: Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine] vol. 43 Availability: No items available. Save to lists Add to cart (remove)
	36.	[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children]. [electronic resource] by Xie, Li-Juan Zhu, Jian-Xing Zhu, Xiao-Dong Li, Hua-Jun Han, Lian-Shu Gu, Xue-Fan Producer: 20080605 In: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics vol. 10 Availability: No items available. Save to lists Add to cart (remove)
	37.	[Establishment and clinical application of dried blood spots and mixed leukocytes for determination of acid alpha-glucosidase activity]. [electronic resource] by Qiu, Wen-juan Wang, Xia Wang, Yu Ye, Jun Han, Lian-shu Zhang, Hui-wen Gu, Xue-fan Producer: 20110203 In: Zhonghua er ke za zhi = Chinese journal of pediatrics vol. 48 Availability: No items available. Save to lists Add to cart (remove)
	38.	[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]. [electronic resource] by Han, Lian-Shu Ye, Jun Qiu, Wen-Juan Gao, Xiao-Lan Wang, Yu Jin, Jing Gu, Xue-Fan Producer: 20090409 In: Zhonghua yi xue za zhi vol. 88 Availability: No items available. Save to lists Add to cart (remove)
	39.	[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]. [electronic resource] by Han, Lian-shu Ye, Jun Qiu, Wen-juan Gao, Xiao-lan Wang, Yu Zhang, Yong-jun Gu, Xue-fan Producer: 20090427 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 24 Availability: No items available. Save to lists Add to cart (remove)
	40.	Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis. [electronic resource] by Lei, Hong-Lin Ye, Jun Qiu, Wen-Juan Zhang, Hui-Wen Han, Lian-Shu Wang, Yu Gu, Xue-Fan Producer: 20130507 In: World journal of pediatrics : WJP vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 77 results.