Chun-yiu E. Law

Hong Kong, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 26 publications

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.

Journal: Neurology

Published: January 30, 2025

Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screening.

Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screening.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: February 27, 2023

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.

Journal: Orphanet journal of rare diseases

Published: September 01, 2022

C-terminal truncated SPOP, a Janus-faced variant, causing a mixed type 1 and type 2 Nabais Sa-de Vries syndrome.

C-terminal truncated SPOP, a Janus-faced variant, causing a mixed type 1 and type 2 Nabais Sa-de Vries syndrome.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: June 09, 2022

Changing pleural fluid triglyceride levels in cirrhotic chylothorax.

Changing pleural fluid triglyceride levels in cirrhotic chylothorax.

Journal: Respirology case reports

Published: November 18, 2021

Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area.

Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: June 08, 2021

Serum ceruloplasmin monitoring in a case of silver intoxication due to intravenous silver infusion.

Serum ceruloplasmin monitoring in a case of silver intoxication due to intravenous silver infusion.

Journal: Clinical toxicology (Philadelphia, Pa.)

Published: May 28, 2021

Nuclear magnetic resonance spectroscopy-based urinalysis for a young girl with extreme hypoglycaemia.

Nuclear magnetic resonance spectroscopy-based urinalysis for a young girl with extreme hypoglycaemia.

Journal: Pathology

Published: November 26, 2020

Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria.

Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: September 07, 2020

Centrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies.

Centrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: November 01, 2019

Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome.

Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: March 18, 2019

Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy.

Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: July 30, 2018

Showing 1-12 of 26

Last Updated: 09/26/2026