Li Liu

9 Jinsui Road
Guangzhou, China

Last Updated: 09/26/2026

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Found 29 publications

Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China.

Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China.

Journal: Orphanet journal of rare diseases

Published: March 23, 2025

Disease burden and health-related quality of life among children with X-linked hypophosphataemia in China: a national cross-sectional survey.

Disease burden and health-related quality of life among children with X-linked hypophosphataemia in China: a national cross-sectional survey.

Journal: BMJ paediatrics open

Published: October 28, 2024

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.

Journal: Orphanet journal of rare diseases

Published: January 11, 2024

Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.

Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.

Journal: Metabolic brain disease

Published: September 01, 2023

Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.

Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.

Journal: Orphanet journal of rare diseases

Published: July 06, 2023

Heterozygous de novo dominant negative mutation of REXO2 results in interferonopathy.

Heterozygous de novo dominant negative mutation of REXO2 results in interferonopathy.

Journal: Nature communications

Published: June 03, 2023

Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life.

Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life.

Journal: Italian journal of pediatrics

Published: January 19, 2023

A sensitive liquid chromatography-tandem mass spectrometry method for determination biomarkers of monoamine neurotransmitter disorders in cerebrospinal fluid.

A sensitive liquid chromatography-tandem mass spectrometry method for determination biomarkers of monoamine neurotransmitter disorders in cerebrospinal fluid.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: January 08, 2023

Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study.

Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study.

Journal: Frontiers in pediatrics

Published: July 30, 2022

Human iPSC-derived neural stem cells with ALDH5A1 mutation as a model of succinic semialdehyde dehydrogenase deficiency.

Human iPSC-derived neural stem cells with ALDH5A1 mutation as a model of succinic semialdehyde dehydrogenase deficiency.

Journal: BMC neuroscience

Published: April 20, 2022

Mitochondrial FAD shortage in SLC25A32 deficiency affects folate-mediated one-carbon metabolism.

Mitochondrial FAD shortage in SLC25A32 deficiency affects folate-mediated one-carbon metabolism.

Journal: Cellular and molecular life sciences : CMLS

Published: February 21, 2022

A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report.

A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report.

Journal: BMC pediatrics

Published: August 24, 2021

Showing 1-12 of 29

Last Updated: 09/26/2026