Mei Lu

10# Zhenhai Road
Xiamen, China

Last Updated: 09/26/2026

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Found 12 publications

Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China.

Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China.

Journal: International journal of neonatal screening

Published: December 15, 2024

Longitudinal efficacy of risdiplam treatment in Chinese children with spinal muscular atrophy.

Longitudinal efficacy of risdiplam treatment in Chinese children with spinal muscular atrophy.

Journal: Orphanet journal of rare diseases

Published: December 11, 2024

Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model.

Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model.

Journal: Orphanet journal of rare diseases

Published: September 26, 2024

Congenital bile acid synthetic disorder type 3 caused by CYP7B1 gene variation in 2 cases and literature review

Congenital bile acid synthetic disorder type 3 caused by CYP7B1 gene variation in 2 cases and literature review

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: August 27, 2024

Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.

Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.

Journal: Lipids in health and disease

Published: August 26, 2024

Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.

Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.

Journal: BMC pediatrics

Published: May 06, 2024

Dysregulation of cerebrospinal fluid metabolism profiles in spinal muscular atrophy patients: a case control study.

Dysregulation of cerebrospinal fluid metabolism profiles in spinal muscular atrophy patients: a case control study.

Journal: Italian journal of pediatrics

Published: April 17, 2024

Gene variants and clinical characteristics of children with sitosterolemia.

Gene variants and clinical characteristics of children with sitosterolemia.

Journal: Lipids in health and disease

Published: December 20, 2023

Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency.

Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency.

Journal: BMC medical genomics

Published: November 04, 2023

Safety Concerns with Nusinersen, Risdiplam, and Onasemnogene Abeparvovec in Spinal Muscular Atrophy: A Real-World Pharmacovigilance Study.

Safety Concerns with Nusinersen, Risdiplam, and Onasemnogene Abeparvovec in Spinal Muscular Atrophy: A Real-World Pharmacovigilance Study.

Journal: Clinical drug investigation

Published: October 25, 2023

Clinical Characteristics, In Silico Analysis, and Intervention of Neonatal-Onset Inflammatory Bowel Disease With Combined Immunodeficiency Caused by Novel TTC7A Variants.

Clinical Characteristics, In Silico Analysis, and Intervention of Neonatal-Onset Inflammatory Bowel Disease With Combined Immunodeficiency Caused by Novel TTC7A Variants.

Journal: Frontiers in genetics

Published: April 16, 2022

Septicaemia with deep venous thrombosis and necrotising pneumonia caused by acute community-acquired methicillin-resistant Staphylococcus aureus in an infant with a three-year follow-up: a case report.

Septicaemia with deep venous thrombosis and necrotising pneumonia caused by acute community-acquired methicillin-resistant Staphylococcus aureus in an infant with a three-year follow-up: a case report.

Journal: BMC infectious diseases

Published: December 06, 2020

Showing 1-12 of 12

Last Updated: 09/26/2026