Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Azura Ramlee"'
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
Publikováno v:
In Journal of Cataract & Refractive Surgery 2011 37(4):655-659
Autor:
Yusnita Yakob, Muzhirah Aisha Md Haniffa, Azura Ramlee, Meow-Keong Thong, Mohd Khairul Nizam Mohd Khalid, Nor Azimah Abdul Azize, Huey Yin Leong, Wee Teik Keng, Liang Choo Hung, Norzila Mohamed Zainudin, Lock Hock Ngu, Hui Bein Chew
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
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 chondroitin-6-su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbacc389030517a4d749cb3e3e33e1c6
https://doi.org/10.1186/s13023-019-1105-6
https://doi.org/10.1186/s13023-019-1105-6
Autor:
Leong, Huey, Nor Abdul Azize, Chew, Hui, Wee Keng, Meow Thong, Mohd Mohd Khalid, Hung, Liang, Norzila Mohamed Zainudin, Azura Ramlee, Muzhirah Md Haniffa, Yusnita Yakob, Lock Ngu
Table S1. Biochemical characteristics of Malaysian MPS IVA patients. Table S2. In silico prediction of novel missense mutations in the GALNS gene. (DOCX 17 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b95511e9260e10da15488beb4396511c
Autor:
Nik Nazihah Nik Azis, Azura Ramlee, Fiona Lee Min Chew, Siti Famira Rosland, Jemaima Che-Hamzah
Publikováno v:
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 23(5)
Purpose To evaluate parents' performance in using the American Association for Pediatric Ophthalmology and Strabismus (AAPOS) Vision Screening App (application) as a vision screening tool among preschool children and to evaluate the reliability of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3487a7ac60f0771b65869c6f67c351ab
https://pubmed.ncbi.nlm.nih.gov/31520719
https://pubmed.ncbi.nlm.nih.gov/31520719
Publikováno v:
Acta Ophthalmologica. 93:e111-e117
Purpose The mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders, characterized by the accumulation of glycosaminoglycans within multiple organ systems including the eye. This study aimed to determine the prevalence of glaucoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae9a4ba8d073184c6fb6ee41ca4d7c36
https://doi.org/10.1111/aos.12607
https://doi.org/10.1111/aos.12607