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Risk factors for postoperative delirium in patients after coronary artery bypass grafting: A prospective cohort study

Journal of critical care, 2015-06, Vol.30 (3), p.606-612

2015

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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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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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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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SELF-ASSEMBLY OF LINEAR TRIBLOCK COPOLYMERS UNDER CYLINDRICAL NANOPORE CONFINEMENTS

Chinese journal of polymer science, 2013, Vol.31 (1), p.122-138

2013

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Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort

World journal of pediatrics : WJP, 2023-12

2023

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

World journal of pediatrics : WJP, 2015-11, Vol.11 (4), p.358-365

2015

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Hypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype

JIMD Reports, Volume 17, 2014, Vol.17, p.71-75

2014

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

World journal of pediatrics : WJP, 2015-11, Vol.11 (4), p.366-373

2015

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Patients with progressive pseudorheumatoid dysplasia: from clinical diagnosis to molecular studies

Molecular medicine reports, 2012-01, Vol.5 (1), p.190-195

2012

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A clinical, neurolinguistic, and radiological study of a Chinese follow-up case with primary progressive aphasia

Neurocase, 2013, Vol.19 (5), p.427-433

2013

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

World journal of pediatrics : WJP, 2012-11, Vol.8 (4), p.359-362

2012

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

World journal of pediatrics : WJP, 2014-08, Vol.10 (3), p.219-226

2014

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Clinical characteristics and prognosis of infantile-onset glycogen storage disease type II in 16 Chinese patients

Zhong hua yi xue za zhi, 2013-05, Vol.93 (20), p.1567-1570

2013

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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 study of oral alendronate in the treatment of pediatric osteogenesis imperfecta

Zhong hua yi xue za zhi, 2012-01, Vol.92 (4), p.246-249

2012

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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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Clinical characteristics and analysis of mass spectrometric data in 33 patients with maple syrup urine disease

Zhong hua yi xue za zhi, 2012-10, Vol.92 (40), p.2839-2842

2012

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Pay attention to etiologic diagnosis of cardiomyopathy in children

Zhonghua er ke za zhi, 2010-12, Vol.48 (12), p.889

2010

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Risk factors for postoperative delirium in patients after coronary artery bypass grafting: A prospective cohort study

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

Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant

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

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

SELF-ASSEMBLY OF LINEAR TRIBLOCK COPOLYMERS UNDER CYLINDRICAL NANOPORE CONFINEMENTS

Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort

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

Hypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype

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

Patients with progressive pseudorheumatoid dysplasia: from clinical diagnosis to molecular studies

A clinical, neurolinguistic, and radiological study of a Chinese follow-up case with primary progressive aphasia

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

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

Clinical characteristics and prognosis of infantile-onset glycogen storage disease type II in 16 Chinese patients

Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment

Clinical study of oral alendronate in the treatment of pediatric osteogenesis imperfecta

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

Clinical characteristics and analysis of mass spectrometric data in 33 patients with maple syrup urine disease

Pay attention to etiologic diagnosis of cardiomyopathy in children

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