Yanyun Wang

No.123, Mochou Road
Nanjing, China

Last Updated: 09/26/2026

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Found 17 publications

Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates.

Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates.

Journal: Orphanet journal of rare diseases
Published: April 23, 2024

Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase gene

Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: March 06, 2024

Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population.

Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population.

Journal: Frontiers in genetics
Published: October 25, 2021

A joint method for the screening of pharmacological chaperones for phenylalanine hydroxylase.

A joint method for the screening of pharmacological chaperones for phenylalanine hydroxylase.

Journal: Organic & biomolecular chemistry
Published: June 11, 2021

Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population.

Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population.

Journal: Orphanet journal of rare diseases
Published: March 12, 2021

Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population.

Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population.

Journal: Frontiers in genetics
Published: October 29, 2020

An Easily Overlooked Contamination of Syringes in Newborn Screening by Tandem Mass Spectrometry.

An Easily Overlooked Contamination of Syringes in Newborn Screening by Tandem Mass Spectrometry.

Journal: Frontiers in pediatrics
Published: August 19, 2020

Analysis of AGR1 gene variants in an infant with early-onset argininemia

Analysis of AGR1 gene variants in an infant with early-onset argininemia

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: October 11, 2019

Analysis of five cases of hypermethioninemia diagnosed by neonatal screening.

Analysis of five cases of hypermethioninemia diagnosed by neonatal screening.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: June 24, 2019

Clinical and genetic analysis of two children suspected for argininosuccinic aciduria

Clinical and genetic analysis of two children suspected for argininosuccinic aciduria

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: April 29, 2019

Clinical Application of LC-MS/MS in the Follow-Up for Treatment of Children with Methylmalonic Aciduria.

Clinical Application of LC-MS/MS in the Follow-Up for Treatment of Children with Methylmalonic Aciduria.

Journal: Advances in therapy
Published: November 21, 2018

Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay.

Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay.

Journal: Frontiers in genetics
Published: August 30, 2018
Showing 1-12 of 17

Last Updated: 09/26/2026