Xiaolong Qiu

Fujian Key Laboratory For Prenatal Diagnosis And Birth Defect
Fuzhou, China

Last Updated: 09/26/2026

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Found 14 publications

Clinical application of long-read sequencing in newborn genetic screening for congenital adrenal hyperplasia.

Clinical application of long-read sequencing in newborn genetic screening for congenital adrenal hyperplasia.

Journal: Frontiers in genetics

Published: May 29, 2026

A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China.

A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China.

Journal: International journal of neonatal screening

Published: April 24, 2026

Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis.

Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis.

Journal: International journal of neonatal screening

Published: September 16, 2025

GJB2 c.109G > A mutation activating IFI27-mediated mitochondrial apoptosis pathway leading to hereditary non-syndromic hearing loss.

GJB2 c.109G > A mutation activating IFI27-mediated mitochondrial apoptosis pathway leading to hereditary non-syndromic hearing loss.

Journal: Scientific reports

Published: August 13, 2025

Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China.

Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China.

Journal: Frontiers in genetics

Published: May 07, 2024

Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis.

Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis.

Journal: Orphanet journal of rare diseases

Published: April 17, 2024

Newborn Screening of 6 Lysosomal Storage Disorders by Tandem Mass Spectrometry.

Newborn Screening of 6 Lysosomal Storage Disorders by Tandem Mass Spectrometry.

Journal: Clinical pediatrics

Published: December 23, 2023

Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China.

Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China.

Journal: Frontiers in genetics

Published: June 30, 2023

Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.

Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.

Journal: Orphanet journal of rare diseases

Published: May 12, 2023

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.

Journal: Molecular biology reports

Published: November 19, 2021

Gene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian.

Gene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian.

Journal: Medicine

Published: July 20, 2020

Perinatal risk factors for congenital hypothyroidism: A retrospective cohort study performed at a tertiary hospital in China.

Perinatal risk factors for congenital hypothyroidism: A retrospective cohort study performed at a tertiary hospital in China.

Journal: Medicine

Published: June 27, 2020

Showing 1-12 of 14

Last Updated: 09/26/2026