Výsledky vyhledávání - "James Soon Chuan Lim"

Akademický článek

Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report

Autor: Liuh Ling Goh, Yingshan Lee, Ee Shien Tan, James Soon Chuan Lim, Chia Wei Lim, Rinkoo Dalan

Publikováno v: BMC Medical Genomics, Vol 11, Iss 1, Pp 1-8 (2018)

Abstract Background Lipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical phenotype and age of onset. Classical multiple acyl-CoA dehydrogenase deficiency (MADD) is known to occur secondary

Externí odkaz: https://doaj.org/article/ef2e4c0bcdf44319a77f7dd07aabf6ba

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Akademický článek

To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening.

Autor: Thurston Yan Jia Heng, Jin Rong Ow, Ai Ling Koh, James Soon Chuan Lim, Christine Bee Keow Ong, Jasmine Chew Yin Goh, Jiin Ying Lim, Fang Kuan Chiou, Jamuar, Saumya Shekhar

Publikováno v: Clinical Dysmorphology; Jan2024, Vol. 33 Issue 1, p43-49, 7p

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