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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
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
Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience.
Published in:
Case Reports in Neurological Medicine, 2014, p. 1, doi. 10.1155/2014/926510
By:
- Hiew Fu Liong;
- Abdul Wahab, Siti Aishah;
- Yusnita Yakob;
- Ngu Lock Hock;
- Wong Kum Thong;
- Viswanathan, Shanthi
Publication type:
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
Lack of meaningful genotype-phenotype association in SCN1A-related infantile-onset epileptic encephalopathies.
Published in:
Neurology Asia, 2017, v. 22, n. 2, p. 99
By:
- Wahab, Siti Aishah Abdul;
- Yusnita Yakob;
- Teik-Beng Khoo;
- Terumalay, Sangita Dharshini;
- Ganesan, Vigneswari;
- Chee-Ming Teh;
- bin Yahaya, Nor Azni;
- Hock-Sin Heng;
- Vaithialingam, Manonmani;
- Sau-Wei Wong
Publication type:
Article

Found: 5

Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.

Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.

Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience.

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

Lack of meaningful genotype-phenotype association in SCN1A-related infantile-onset epileptic encephalopathies.