Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants
Chan, Mei-Yan, Jalil, Julaina Abdul, Yakob, Yusnita, Wahab, Siti Aishah Abdul, Ali, Ernie Zuraida, Khalid, Mohd Khairul Nizam Mohd, Leong, Huey-Yin, Chew, Hui-Bein, Sivabalakrishnan, Jeya Bawani, Ngu, Lock-Hock
Published in Orphanet journal of rare diseases (04.08.2023)
Published in Orphanet journal of rare diseases (04.08.2023)
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Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study
Leong, Huey Yin, Abdul Azize, Nor Azimah, Chew, Hui Bein, Keng, Wee Teik, Thong, Meow Keong, Mohd Khalid, Mohd Khairul Nizam, Hung, Liang Choo, Mohamed Zainudin, Norzila, Ramlee, Azura, Md Haniffa, Muzhirah Aisha, Yakob, Yusnita, Ngu, Lock Hock
Published in Orphanet journal of rare diseases (14.06.2019)
Published in Orphanet journal of rare diseases (14.06.2019)
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Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes
Courage, Carolina, Oliver, Karen L., Park, Eon Joo, Cameron, Jillian M., Grabińska, Kariona A., Muona, Mikko, Canafoglia, Laura, Gambardella, Antonio, Said, Edith, Afawi, Zaid, Baykan, Betul, Brandt, Christian, di Bonaventura, Carlo, Chew, Hui Bein, Criscuolo, Chiara, Dibbens, Leanne M., Castellotti, Barbara, Riguzzi, Patrizia, Labate, Angelo, Filla, Alessandro, Giallonardo, Anna T., Berecki, Geza, Jackson, Christopher B., Joensuu, Tarja, Damiano, John A., Kivity, Sara, Korczyn, Amos, Palotie, Aarno, Striano, Pasquale, Uccellini, Davide, Giuliano, Loretta, Andermann, Eva, Scheffer, Ingrid E., Michelucci, Roberto, Bahlo, Melanie, Franceschetti, Silvana, Sessa, William C., Berkovic, Samuel F., Lehesjoki, Anna-Elina
Published in American journal of human genetics (01.04.2021)
Published in American journal of human genetics (01.04.2021)
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Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients
Chew, Hui Bein, Ngu, Lock Hock, Zabedah, Md Yunus, Keng, Wee Teik, Balasubramaniam, Shanti, Hanifah, Mohd Jamil M., Kobayashi, Keiko
Published in Journal of inherited metabolic disease (01.12.2010)
Published in Journal of inherited metabolic disease (01.12.2010)
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AB085. Imprinting mutation of CDKN1C in Beckwith-Wiedemann Syndrome: inheritance, genetic counselling and surveillance
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
Published in Annals of translational medicine (01.09.2015)
Published in Annals of translational medicine (01.09.2015)
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AB168. Novel DYM compound heterozygous mutations in a Malaysian boy with Dyggve-Melchior-Clausen syndrome
Ong, Winnie Peitee, Md Haniffa, Muzhirah Aisha, Leong, Huey Yin, Chew, Hui Bein, Ch’ng, Gaik Siew, Ngu, Lock Hock, Patel, Nisha, Hashem, Mais Omar, Alkuraya, Fowzan Sami, Keng, Wee Teik
Published in Annals of translational medicine (01.09.2015)
Published in Annals of translational medicine (01.09.2015)
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