Yong-lan Huang
Guangzhou, China
Last Updated: 09/26/2026
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Found 9 publications
Combined biochemical and genetic analysis improves early diagnosis and prenatal assessment of multiple acyl-CoA dehydrogenase deficiency.
Journal: World journal of pediatrics : WJP
Published: November 05, 2025
Expert consensus on the combined screening of genes and biomarkers for neonatal diseases.
Journal: World journal of pediatrics : WJP
Published: July 07, 2025
Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts.
Journal: World journal of pediatrics : WJP
Published: October 04, 2021
Same-sex twins have a high incidence of congenital hypothyroidism and a high probability to be missed at newborn screening.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: August 13, 2019
Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: January 20, 2017
Identification of a novel pathogenic mutation in PDHA1 gene for pyruvate dehydrogenase complex deficiency
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: August 20, 2015
Clinical features and StAR gene mutations in children with congenital lipoid adrenal hyperplasia
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: May 28, 2015
Wolman disease with novel mutation of LIPA gene in a Chinese infant
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: November 20, 2012
Enzymatic diagnosis and clinical characteristics of 52 children with mucopolysaccharidosis
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: July 20, 2012
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Last Updated: 09/26/2026