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Your search keyword '"Mawardi, Ahmad Shahir"' showing total 3 results
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3 results on '"Mawardi, Ahmad Shahir"'

1. Genetic study of early-onset Parkinson's disease in the Malaysian population

Author

Tay, Yi Wen, Tan, Ai Huey, Lim, Jia Lun, Lohmann, Katja, Ibrahim, Khairul Azmi, Abdul Aziz, Zariah, Chin, Yen Theng, Mawardi, Ahmad Shahir, Lim, Thien Thien, Looi, Irene, Chia, Yuen Kang, Ooi, Joshua Chin Ern, Cheah, Wee Kooi, Dy Closas, Alfand Marl F., Lit, Lei Cheng, Hor, Jia Wei, Toh, Tzi Shin, Muthusamy, Kalai Arasu, Bauer, Peter, Skrahin, Volha, Rolfs, Arndt, Klein, Christine, Ahmad-Annuar, Azlina, and Lim, Shen-Yang

Published
2023
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2. Myoclonus‐Ataxia Syndrome Associated with Hyperprolinemia Type I.

Author

Ong, Tien Lee, Lau, Yue Hui, Ngu, Lock Hock, Hadi, Dianah, Lau, Keng Ming, and Mawardi, Ahmad Shahir

Subjects
MYOCLONUS, MOVEMENT disorders, SYNDROMES, 22Q11 deletion syndrome, HEARING disorders, DISABILITIES, SYMPTOMS
Abstract

Epilepsy, action tremor, ataxia, hyperprolinemia Myoclonus-Ataxia Syndrome Associated with Hyperprolinemia Type I Keywords: epilepsy; action tremor; ataxia; hyperprolinemia EN epilepsy action tremor ataxia hyperprolinemia S38 S40 3 08/28/23 20230802 NES 230802 Hyperprolinemiatype I (HPIOMIM# 239500) is a rare autosomal recessive metabolic disorder of proline metabolism caused by deficiency in enzyme proline oxidase, also known as proline dehydrogenase (PRODH) encoded by I PRODH i gene located on the chromosome 22 (22q11.21). [Extracted from the article]

Published
2023
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