Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Ernie Zuraida Ali"'
Autor:
Mei-Yan Chan, Julaina Abdul Jalil, Yusnita Yakob, Siti Aishah Abdul Wahab, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, Huey-Yin Leong, Hui-Bein Chew, Jeya Bawani Sivabalakrishnan, Lock-Hock Ngu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background Pompe disease is a rare glycogen storage disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to glycogen deposition in multiple tissues. Infantile-onset Pompe disease (IOPD) patients present
Externí odkaz:
https://doaj.org/article/4d80c9ff956948ffb92f6bbfcbd5b9cb
Autor:
Jeyanthi Suppiah, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, Sumarni Mohd Ghazali, Kok Keng Tee, Murni Maya Sari Zulkifli, Nuraisyah Ramli, Amir Hussin Adiee, Muhamad Nurrani Ramly, Fionie Robert, Sarbhan Singh Lakha Singh, Rozainanee Mohd Zain, Ravindran Thayan
Publikováno v:
Tropical Medicine and Infectious Disease, Vol 8, Iss 8, p 409 (2023)
Dengue virus serotype 4 (DENV-4) has been the rarest circulating serotype in Malaysia, resulting in it being an understudied area. A recent observation from institutional surveillance data indicated a rapid increase in DENV-4-infected cases. The pres
Externí odkaz:
https://doaj.org/article/8ba5577daf164c54aa5fabbad437dc2a
Autor:
Ernie Zuraida Ali, Lock-Hock Ngu
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 17, Iss , Pp 22-30 (2018)
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder. This disorder is usually caused by mutations in any one of the genes; BCKDHA, BCKDHB and DBT, which represent E1α, E1β and E2 subunits of the branched-chain α-keto
Externí odkaz:
https://doaj.org/article/67ff40f8829b4e43bc7b872b326b811a
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
Argininosuccinate lyase (ASL) deficiency impairs the function of the urea cycle that detoxifies blood ammonia in the body. Mutation that occurs in the ASL gene is the cause of occurrence of ASL deficiency (ASLD). This deficiency causes hyperammonemia
Externí odkaz:
https://doaj.org/article/190bc385ad804b62b5f4cc326f6514a2
Publikováno v:
Asia Pacific Journal of Molecular Biology and Biotechnology. :47-58
Tuberculosis (TB) is mainly caused by Mycobacterium tuberculosis (MTB) and remains as a key public health problem worldwide. Most of MTB clinical strains are resistant to rifampicin (RIF), the first-line anti-tuberculosis drug. RIF resistance to MTB
Autor:
Mei Yan Chan, Julaina Abdul Jalil, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, Yusnita Yakob, Siti Aishah Abdul Wahab, Hui Bein Chew, Huey Yin Leong, Jeya Bawani Sivabalakrishnan, Lock Hock Ngu
Background Pompe disease is a rare glycogen storage disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to glycogen deposition in multiple tissues. Infantile-onset Pompe disease (IOPD) patients present within t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::19ad3df090d36fa306fa3291df3f6890
https://doi.org/10.21203/rs.3.rs-1721748/v1
https://doi.org/10.21203/rs.3.rs-1721748/v1
Autor:
Lock-Hock Ngu, Ernie Zuraida Ali
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 17, Iss, Pp 22-30 (2018)
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder. This disorder is usually caused by mutations in any one of the genes; BCKDHA, BCKDHB and DBT, which represent E1α, E1β and E2 subunits of the branched-chain α-keto
Autor:
Yusnita Yakob, Ernie Zuraida Ali, Kartikasalwah Abd Latif, Chen Bee Chin, Mohd Khairul Nizam Mohd Khalid, Ngu Lock Hock, Zabedah Md Yunus
Publikováno v:
European Journal of Pediatrics. 175:339-346
Carbamoyl phosphate synthetase 1 (CPS1) deficiency is a rare autosomal recessive disorder of ureagenesis presenting as life-threatening hyperammonemia. In this study, we present the main clinical features and biochemical and molecular data of six Mal
Publikováno v:
BioMed Research International
BioMed Research International, Vol 2018 (2018)
BioMed Research International, Vol 2018 (2018)
Ornithine transcarbamylase deficiency (OTCD), an X-linked disorder that results from mutations in the OTC gene, causes hyperammonemia and leads to various clinical manifestations. Mutations occurring close to the catalytic site of OTCase can cause se
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 26
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder of branched-chain amino acid metabolism caused by the defective function of branched-chain α-ketoacid dehydrogenase complex (BCKDH). It is characterised by increased p