Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

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

ENDOVASCULAR TREATMENT OF POSTERIOR CIRCULATION ANEURYSMS: A SINGLE CENTER'S EXPERIENCE OF 111 CASES

Autor: Mustafa Najibullah MD, Atawula Tuersun, Nizamidingjiang Rexiati, Sanawar Abbas, Maimaitili·Aisha MD, GENG DangMurenJiafu MD

Objective: Endovascular treatment is considered as the cure at initial level treatment modality for posterior circulation aneurysms. In this work, we analyze the treatment patterns and complication rates of treatment of endovascular system for the ci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a9f800ac56d754ad7a32de8b28a65f2

AB085. Imprinting mutation of CDKN1C in Beckwith-Wiedemann Syndrome: inheritance, genetic counselling and surveillance

Autor: Chew, Hui Bein, Ong, Winnie Peitee, Haniffa, Muzhirah Aisha Md, Leong, Huey Yin, Krishnan, Thurga, Poh, Rozaida Yuen Ying, Thong, Meow Keong, Ishak, Mohd Taufik, Keng, Wee Teik

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmc_________::dc66f71379a28b05bb42bbaa97827a16
https://europepmc.org/articles/PMC4563511/

Short-term moderate hypothermia stimulates alkaline phosphatase activity and osteocalcin expression in osteoblasts by upregulating Runx2 and osterix in vitro.

Autor: Aisha MD; Institute of Medical Molecular Biotechnology & Faculty of Medicine, Universiti Teknologi MARA, 47000 Sungai Buloh, Selangor, Malaysia. Electronic address: aisha.mohddin@gmail.com., Nor-Ashikin MN; Institute of Medical Molecular Biotechnology & Faculty of Medicine, Universiti Teknologi MARA, 47000 Sungai Buloh, Selangor, Malaysia; DDH, Universiti of Teknologi MARA, Shah Alam, Selangor, Malaysia. Electronic address: noras011@salam.uitm.edu.my., Sharaniza AB; DDH, Universiti of Teknologi MARA, Shah Alam, Selangor, Malaysia. Electronic address: sharaniza_abrahim@salam.uitm.edu.my., Nawawi HM; Center for Pathology Diagnostic and Research Laboratories, Clinical Training Center, Universiti Teknologi MARA, 47000 Sungai Buloh, Selangor, Malaysia; DDH, Universiti of Teknologi MARA, Shah Alam, Selangor, Malaysia. Electronic address: hapizah@salam.uitm.edu.my., Kapitonova MY; Institute of Medical Molecular Biotechnology & Faculty of Medicine, Universiti Teknologi MARA, 47000 Sungai Buloh, Selangor, Malaysia; DDH, Universiti of Teknologi MARA, Shah Alam, Selangor, Malaysia. Electronic address: marina@salam.uitm.edu.my., Froemming GR; Institute of Medical Molecular Biotechnology & Faculty of Medicine, Universiti Teknologi MARA, 47000 Sungai Buloh, Selangor, Malaysia; DDH, Universiti of Teknologi MARA, Shah Alam, Selangor, Malaysia. Electronic address: gabriele@salam.uitm.edu.my.

Publikováno v: Experimental cell research [Exp Cell Res] 2014 Aug 01; Vol. 326 (1), pp. 46-56. Date of Electronic Publication: 2014 Jun 11.