Jianbin Yang
Hangzhou, 310052, China
Last Updated: 09/26/2026
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Found 19 publications
Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022.
Journal: Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
Published: December 18, 2023
Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: January 29, 2023
Dynamic changes of metabolic characteristics in neonatal intrahepatic cholestasis caused by citrin deficiency.
Journal: Frontiers in molecular biosciences
Published: May 09, 2022
Biochemical, molecular, and clinical features of patients with glutaric acidemia type 1 identified through large-scale newborn screening in Zhejiang Province, China.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: January 24, 2022
Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China.
Journal: Frontiers in genetics
Published: November 28, 2021
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Journal: Orphanet journal of rare diseases
Published: June 21, 2021
Ketoacidotic crisis after vaccination in a girl with beta-ketothiolase deficiency: a case report.
Journal: Translational pediatrics
Published: March 12, 2021
Screening and clinical analysis of isovaleric acidemia newborn in Zhejiang province
Journal: Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
Published: November 19, 2020
Effects of delivery and storage conditions on concentrations of amino acids and carnitines in neonatal dried blood spots
Journal: Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
Published: November 19, 2020
Identification of a de novo missense variant of ARID1B gene in a child with mental retardation
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 14, 2020
Determination of methylmalonic acid, 2-methylcitric acid, and total homocysteine in dried blood spots by liquid chromatography-tandem mass spectrometry: A reliable follow-up method for propionylcarnitine-related disorders in newborn screening.
Journal: Journal of medical screening
Published: July 04, 2020
Genetic analysis of newborns with abnormal metabolism of 3-hydroxyisovalerylcarnitine
Journal: Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
Published: January 05, 2020
Last Updated: 09/26/2026