Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

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

Dietary Adherence in Children with Amino Acid Metabolism Disorders and its Impact on Caregivers’ Quality of Life.

Autor: Chien Yin Yong, Rajikan, Roslee, Jing Ying Lim, Yahya, Hanis Mastura, Ghazali, Shazli Ezzat, Huey Yin Leong, Mohamad, Maslina, Rani, Rufaidah Md., Mohd Fahmi Teng, Nur Islami

Publikováno v: Journal of Nutrition & Food / Jurnal Gizi dan Pangan; Mar2024, Vol. 19 Issue 1, p41-50, 10p

Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients

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

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Autor: Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi, Maha S. Zaki, Thomas J. O’Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gulsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J. Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, David Murphy, Natalia Dominik, Hasnaa M. Elbendary, Karima Rafat, Sanem Yilmaz, Seda Kanmaz, Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhas, Tamison Jewett, Rachel E. Goldberg, Hanan Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gozde Yesil, Esma Sengenc, Serhat Guler, Mariam Hull, Mered Parnes, Dilek Aktas, Banu Anlar, Yavuz Bayram, Davut Pehlivan, Jennifer E. Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama Alabdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M. Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S. Alkuraya, Joseph G. Gleeson, Kristin G. Monaghan, Katherine G. Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André E.X. Brown, James R. Lupski, Henry Houlden, Naomichi Matsumoto

Purpose: Brain monoamine vesicular transport disease is an infantile-onset movement disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2 variant, p.Pro387Leu, was first reported as a cause of this rare disorder, and dopamine agonists

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40233c210f0a1535cbb0ddd886c14d67
https://hdl.handle.net/11454/79547

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

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