Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Yusnita, Yakob"'
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:
Siti Aishah Abdul Wahab, Yusnita Yakob, Mohd Khairul Nizam Mohd Khalid, Noraishah Ali, Huey Yin Leong, Lock Hock Ngu
Publikováno v:
Genetics Research, Vol 2022 (2022)
Background. Glycogen storage disease type 1a (GSD1a) is a rare autosomal recessive metabolic disorder characterized by hypoglycaemia, growth retardation, lactic acidosis, hepatomegaly, hyperlipidemia, and nephromegaly. GSD1a is caused by a mutation i
Externí odkaz:
https://doaj.org/article/22f071b3008a432793afed0b343a722e
Autor:
Huey Yin Leong, Nor Azimah Abdul Azize, Hui Bein Chew, Wee Teik Keng, Meow Keong Thong, Mohd Khairul Nizam Mohd Khalid, Liang Choo Hung, Norzila Mohamed Zainudin, Azura Ramlee, Muzhirah Aisha Md Haniffa, Yusnita Yakob, Lock Hock Ngu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract Background Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results in accumulation of the glycosaminoglycans, keratan sulfate and chondro
Externí odkaz:
https://doaj.org/article/3ceceb60b033493d83a1a1fe11a77f3f
Autor:
M. Mardhiah, Nor Azimah Abdul Azize, Yusnita Yakob, O. Affandi, Ngu Lock Hock, M.R. Rowani, Anasufiza Habib
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)
Introduction: Biotinidase deficiency (BD) is an autosomal recessively inherited disorder characterized by developmental delay, seizures, hypotonia, ataxia, skin rash/eczema, alopecia, conjunctivitis/visual problem/optic atrophy and metabolic acidosis
Externí odkaz:
https://doaj.org/article/e9ed4e87957142ccac1218cc00e2089a
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
Autor:
Lip Hen Moey, Nor Azimah Abdul Azize, Yusnita Yakob, Huey Yin Leong, Wee Teik Keng, Bee Chin Chen, Lock Hock Ngu
Publikováno v:
Pediatrics and Neonatology, Vol 59, Iss 4, Pp 397-403 (2018)
Background: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive inborn error of gluconeogenesis. We reported the clinical findings and molecular genetic data in seven Malaysian patients with FBPase deficiency. Methods: All p
Externí odkaz:
https://doaj.org/article/282a9eb66cab47bb9e181f0db23b8c83
Autor:
Yusnita Yakob, Keng Wee Teik, Muzhirah Haniffa, Ch'ng Gaik Siew, Siti Aishah Abdul Wahab, Winnie Ong Peitee
Publikováno v:
Malaysian Journal of Paediatrics and Child Health. 27:23-27
SHORT Syndrome is a rare genetic condition with less than 50 cases reported worldwide. Its name is an acronym, represented by Short stature, Hyperextensibility of joints, Ocular depression, Rieger anomaly and Teething delay. Other associated features
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5ae5ace682ba2929da4ba56d1e5d677f
https://doi.org/10.51407/mjpch.v27i2.144
https://doi.org/10.51407/mjpch.v27i2.144
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:
Kok Joo Chan, Meow-Keong Thong, Anna Marie Nathan, Surendran Thavagnanam, Yusnita Yakob, Chin Seng Gan
Publikováno v:
Annals of the Academy of Medicine, Singapore. 51:651-652
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99d2d3e0bce14bb7e1d9ea67f2fa1f5b
https://doi.org/10.47102/annals-acadmedsg.202257
https://doi.org/10.47102/annals-acadmedsg.202257
Autor:
Fatimah Diana Amin Nordin, Affandi Omar, Nor Azimah Abdul Azize, Norashareena Mohamed Shakrin, R. Mohamed, Sofwatul Mukhtaroh Nasohah, Seok Hian Lua, Julaina Abdul Jalil, Nor Shuhaili Salleh, Siti Aishah Abdul Wahab, Yusnita Yakob
Background: Lysosomal storage disorders (LSD) are storage disorders involving malfunction of degradation enzymes in lysosome. More than 50 types of LSD have been discovered, which includes the group of mucopolysaccharidoses (MPS), sphingolipidoses, o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::044dddb1126eca57932f24942d257949
https://doi.org/10.21203/rs.3.rs-757575/v1
https://doi.org/10.21203/rs.3.rs-757575/v1