Weihua Lin

700 Fengze Street
Quanzhou, 362000, China

Last Updated: 09/26/2026

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Found 28 publications

Pathogenic Analysis of Two SLC22A5 Variants That Alter RNA Splicing in Patients with Primary Carnitine Deficiency.

Pathogenic Analysis of Two SLC22A5 Variants That Alter RNA Splicing in Patients with Primary Carnitine Deficiency.

Journal: International journal of neonatal screening

Published: January 27, 2026

Different diagnostic criteria influence the determination of Vitamin D nutritional status in children: a cross-sectional study.

Different diagnostic criteria influence the determination of Vitamin D nutritional status in children: a cross-sectional study.

Journal: Frontiers in public health

Published: June 11, 2025

Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.

Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.

Journal: Scientific reports

Published: January 24, 2025

Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China.

Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China.

Journal: Molecular genetics and metabolism reports

Published: May 05, 2024

Incorporating Next-Generation Sequencing as a Second-Tier Test for Primary Carnitine Deficiency.

Incorporating Next-Generation Sequencing as a Second-Tier Test for Primary Carnitine Deficiency.

Journal: Molecular genetics & genomic medicine

Published: April 15, 2024

Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis.

Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis.

Journal: Orphanet journal of rare diseases

Published: February 01, 2024

Newborn screening for fatty acid oxidation disorders in a southern Chinese population.

Newborn screening for fatty acid oxidation disorders in a southern Chinese population.

Journal: Heliyon

Published: September 03, 2023

Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency.

Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: April 25, 2023

WeChat-based mobile health management for short-stature children with long-term growth hormone therapy: A nonexperimental study.

WeChat-based mobile health management for short-stature children with long-term growth hormone therapy: A nonexperimental study.

Journal: Digital health

Published: August 16, 2022

Newborn screening and genetic features of patients with hyperphenylalaninemia in a southern Chinese population.

Newborn screening and genetic features of patients with hyperphenylalaninemia in a southern Chinese population.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: June 14, 2022

Correction to: Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.

Correction to: Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.

Journal: Orphanet journal of rare diseases

Published: January 25, 2022

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.

Journal: Orphanet journal of rare diseases

Published: September 29, 2021

Showing 1-12 of 28

Last Updated: 09/26/2026