Huey‐yin Leong - Genetic Mutations

Author Information

Dr. Huey Yin Leong is a distinguished researcher affiliated with the Genetics Department at Hospital Kuala Lumpur, Ministry of Health Malaysia, located at Jalan Pahang, 50586, Kuala Lumpur, Malaysia. Her work primarily focuses on genetic disorders and their clinical, biochemical, and molecular characteristics.

Research Contributions

Dr. Huey Yin Leong has made significant contributions to the field of genetics, particularly in understanding and managing metabolic and genetic disorders. Her research spans various conditions, including mucopolysaccharidosis type IVA (Morquio A syndrome), Lafora disease, fructose-1,6-bisphosphatase deficiency, and cystic fibrosis. She has also explored the effects of nutritional interventions on children with disorders of amino acid and nitrogen metabolism (AANMDs). Her work is notable for providing clinical and molecular insights, which are crucial for devising effective treatments and interventions.

Aliases

Dr. Huey Yin Leong is also known by several aliases, including H.y. Leong, Huey-yin Leong, and Huey‒yin Leong.

Publication and Citation Metrics

Publication Year	Title	DOI
2021	Effect of nutritional intervention on nutritional status among children with disorders of amino acid and nitrogen metabolism (AANMDs): A scoping review	10.5582/irdr.2021.01124
2019	Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study	10.1186/s13023-019-1105-6
2019	Lafora disease in a Malaysian with a rare mutation in the EPM2A gene	10.1016/j.seizure.2019.03.012
2018	Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients.	10.1016/j.pedneo.2017.11.006
2018	De novo hotspot variants in CYFIP2 cause early‒onset epileptic encephalopathy	10.1002/ana.25208
2017	CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis	10.1002/mgg3.258
2017	Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II	10.1016/j.ymgmr.2017.05.002
2016	Title CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis
2016	Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.	10.1016/j.ajhg.2016.08.005
2016	Contents Vol. 109, 2016	10.1159/000444768