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Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.
Published in:
BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/4074365
By:
- Abdul Wahab, Siti Aishah;
- Yakob, Yusnita;
- Abdul Azize, Nor Azimah;
- Md Yunus, Zabedah;
- Huey Yin, Leong;
- Mohd Khalid, Mohd Khairul Nizam;
- Lock Hock, Ngu
Publication type:
Article
N-Carbamylglutamate Is an Effective Treatment for Acute Neonatal Hyperammonaemia in a Patient with Methylmalonic Aciduria.
Published in:
Neonatology (16617800), 2016, v. 109, n. 4, p. 303, doi. 10.1159/000443630
By:
- Yap, Sufin;
- Leong, Huey Yin;
- abdul aziz, Fadzlina;
- Hassim, Haszlin;
- Sthaneshwar, Pavai;
- Teh, Ser Huy;
- abdullah, Ili Syazwana;
- Ngu, Lock Hock;
- Mohamed, Zulqarnain
Publication type:
Article
Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.
Published in:
Genetics Research, 2022, p. 1, doi. 10.1155/2022/5870092
By:
- Abdul Wahab, Siti Aishah;
- Yakob, Yusnita;
- Mohd Khalid, Mohd Khairul Nizam;
- Ali, Noraishah;
- Leong, Huey Yin;
- Ngu, Lock Hock;
- RAMACHANDRAN, VASUDEVAN
Publication type:
Article
Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.
Published in:
2019
By:
- 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
Publication type:
journal article
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02848-6
By:
- 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
Publication type:
Article
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
Published in:
2018
By:
- Nakashima, Mitsuko;
- Kato, Mitsuhiro;
- Aoto, Kazushi;
- Shiina, Masaaki;
- Belal, Hazrat;
- Mukaida, Souichi;
- Kumada, Satoko;
- Sato, Atsushi;
- Zerem, Ayelet;
- Lerman‐Sagie, Tally;
- Lev, Dorit;
- Leong, Huey Yin;
- Tsurusaki, Yoshinori;
- Mizuguchi, Takeshi;
- Miyatake, Satoko;
- Miyake, Noriko;
- Ogata, Kazuhiro;
- Saitsu, Hirotomo;
- Matsumoto, Naomichi;
- Lerman-Sagie, Tally
Publication type:
journal article
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 40, doi. 10.1002/mgg3.258
By:
- Leung, Gordon K. C.;
- Ying, Dingge;
- Mak, Christopher C. Y.;
- Chen, Xin‐Ying;
- Xu, Weiyi;
- Yeung, Kit‐San;
- Wong, Wai‐Lap;
- Chu, Yoyo W. Y.;
- Mok, Gary T. K.;
- Chau, Christy S. K.;
- McLuskey, Jenna;
- Ong, Winnie P. T.;
- Leong, Huey‐Yin;
- Chan, Kelvin Y. K.;
- Yang, Wanling;
- Chen, Jeng‐Haur;
- Li, Albert M.;
- Sham, Pak C.;
- Lau, Yu‐Lung;
- Chung, Brian H. Y.
Publication type:
Article
Dietary Adherence in Children with Amino Acid Metabolism Disorders and its Impact on Caregivers’ Quality of Life.
Published in:
Journal of Nutrition & Food / Jurnal Gizi dan Pangan, 2024, v. 19, n. 1, p. 41, doi. 10.25182/jgp.2024.19.1.41-50
By:
- 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
Publication type:
Article
Exploring the Barriers and Motivators to Dietary Adherence among Caregivers of Children with Disorders of Amino Acid Metabolism (AAMDs): A Qualitative Study.
Published in:
Nutrients, 2022, v. 14, n. 12, p. 2535, doi. 10.3390/nu14122535
By:
- Lim, Jing Ying;
- Rajikan, Roslee;
- Amit, Noh;
- Ali, Nazlena Mohamad;
- Hamid, Haslina Abdul;
- Leong, Huey Yin;
- Mohamad, Maslina;
- Koh, Bi Qi;
- Musa, Aini
Publication type:
Article

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