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Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study

Cellular physiology and biochemistry, 2018-01, Vol.49 (1), p.295-305

2018

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A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome

Cellular physiology and biochemistry, 2018-07, Vol.47 (6), p.2388-2395

2018

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Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II

Acta pharmacologica Sinica, 2019-02, Vol.40 (2), p.279-287

2019

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Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts

World journal of pediatrics : WJP, 2022-04, Vol.18 (4), p.235-242

2022

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

World journal of pediatrics : WJP, 2017-08, Vol.13 (4), p.381-386

2017

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Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant

Chinese medical journal, 2015-11, Vol.128 (21), p.2979-2980

2015

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

World journal of pediatrics : WJP, 2019-02, Vol.15 (1), p.66-71

2019

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Anti-corrosion and Anti-bacteria Property of Modified Pomegranate Peel Extract

IOP conference series. Materials Science and Engineering, 2018-03, Vol.322 (2), p.22004

2018

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In vitro expression study of novel mutations in phenylalanine hydroxylase gene

Zhonghua yi xue yi chuan xue za zhi, 2013-12, Vol.30 (6), p.673

2013

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The oxidative molecular regulation mechanism of NOX in children with phenylketonuria

International journal of developmental neuroscience, 2014-11, Vol.38 (1), p.178-183

2014

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Present status and trends of prevention and treatment of lysosomal storage diseases

Zhonghua er ke za zhi, 2008-06, Vol.46 (6), p.404

Gu, Xue-fan

2008

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Efficacy and safety of a phenylalanine-free amino acid-based enteral formula (AA-PKU2) in 1-8 year-old children with phenylketonuria: a prospective, open, self-controlled and multi-center study in China

Zhongguo dang dai er ke za zhi, 2014-01, Vol.16 (1), p.11

2014

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Phospholipids Polysaccharide and Its Application as Inhibitive Drilling Fluid Additive

IOP conference series. Materials Science and Engineering, 2018-03, Vol.322 (3), p.32005

2018

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Analysis of clinical manifestations and genetic mutations in a child with Laron syndrome

Zhonghua er ke za zhi, 2013-12, Vol.51 (12), p.930

2013

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Prenatal diagnosis of mucopolysaccharidosis type II

Zhonghua yi xue yi chuan xue za zhi, 2011-10, Vol.28 (5), p.536

2011

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Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment

Zhonghua er ke za zhi, 2013-03, Vol.51 (3), p.194

2013

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

World journal of pediatrics : WJP, 2014-05, Vol.10 (2), p.119-125

2014

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Screening for phenylketonuria and congenital hypothyroidism in 5.8 million neonates in China

Zhōnghuá yùfáng-yīxué zázhì, 2004-03, Vol.38 (2), p.99

2004

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The lab diagnosis of Gaucher disease should be pay more attention

Zhong hua yi xue za zhi, 2009-12, Vol.89 (44), p.3099-3100

2009

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Primary carnitine deficiency in 17 patients: diagnosis, treatment and follow up

Zhonghua er ke za zhi, 2012-06, Vol.50 (6), p.405

2012

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Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA

Zhonghua er ke za zhi, 2013-06, Vol.51 (6), p.414

2013

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Comparison and clinical application of two methods for determination of plasma chitotriosidase activity

Zhonghua er ke za zhi, 2012-11, Vol.50 (11), p.834

2012

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Diagnosis and treatment of isolated methylmalonic acidemia

Zhonghua yi xue yi chuan xue za zhi, 2013-10, Vol.30 (5), p.589

2013

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Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency

Zhonghua yi xue yi chuan xue za zhi, 2013-10, Vol.30 (5), p.574

2013

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Analysis of propionylcarnitine in blood and methylmalonic acid in urine of 162 patients with methylmalonic acidemia

Zhong hua yi xue za zhi, 2013-02, Vol.93 (8), p.561-565

2013

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Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study

A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome

Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II

Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts

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

Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant

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

Anti-corrosion and Anti-bacteria Property of Modified Pomegranate Peel Extract

In vitro expression study of novel mutations in phenylalanine hydroxylase gene

The oxidative molecular regulation mechanism of NOX in children with phenylketonuria

Present status and trends of prevention and treatment of lysosomal storage diseases

Efficacy and safety of a phenylalanine-free amino acid-based enteral formula (AA-PKU2) in 1-8 year-old children with phenylketonuria: a prospective, open, self-controlled and multi-center study in China

Phospholipids Polysaccharide and Its Application as Inhibitive Drilling Fluid Additive

Analysis of clinical manifestations and genetic mutations in a child with Laron syndrome

Prenatal diagnosis of mucopolysaccharidosis type II

Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment

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

Screening for phenylketonuria and congenital hypothyroidism in 5.8 million neonates in China

The lab diagnosis of Gaucher disease should be pay more attention

Primary carnitine deficiency in 17 patients: diagnosis, treatment and follow up

Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA

Comparison and clinical application of two methods for determination of plasma chitotriosidase activity

Diagnosis and treatment of isolated methylmalonic acidemia

Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency

Analysis of propionylcarnitine in blood and methylmalonic acid in urine of 162 patients with methylmalonic acidemia

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