Hasil Pencarian - Lock Hock Ngu

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  1. 1
    Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population

    Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population oleh Ernie Zuraida Ali, Lock-Hock Ngu

    Diterbitkan 2018-12-01
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  2. 2
    Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency

    Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency oleh Ernie Zuraida Ali, Yusnita Yakob, Lock Hock Ngu

    Diterbitkan 2019-12-01
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  3. 3
    Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series

    Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series oleh Mei-Yan Chan, Andrew Jack Nelson, Lock-Hock Ngu

    Diterbitkan 2023-09-01
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  4. 4
    A Comparison of Self-evaluated Survey and Work Sampling Approach for Estimating Patient-care Unit Cost Multiplier in Genetic Nursing Activities

    A Comparison of Self-evaluated Survey and Work Sampling Approach for Estimating Patient-care Unit Cost Multiplier in Genetic Nursing Activities oleh Khairu Hazwan Mustaffa, Asrul Akmal Shafie, Lock-Hock Ngu

    Diterbitkan 2022-08-01
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  5. 5
    Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II

    Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II oleh Lock-Hock Ngu, Winnie Ong Peitee, Huey Yin Leong, Hui Bein Chew

    Diterbitkan 2017-09-01
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  6. 6
    Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review

    Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review oleh Chun-Yang Sim, Shahizon Azura Mohamed Mukari, Lock-Hock Ngu, Chia-Yin Loh, Rabani Remli, Norlinah Mohamed Ibrahim

    Diterbitkan 2022-05-01
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  7. 7
    Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia

    Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia oleh Siti Aishah Abdul Wahab, Yusnita Yakob, Mohd Khairul Nizam Mohd Khalid, Noraishah Ali, Huey Yin Leong, Lock Hock Ngu

    Diterbitkan 2022-01-01
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  8. 8
    Correction: Rare disease in Malaysia: Challenges and solutions.

    Correction: Rare disease in Malaysia: Challenges and solutions. oleh Asrul Akmal Shafie, Azuwana Supian, Mohamed Azmi Ahmad Hassali, Lock-Hock Ngu, Meow-Keong Thong, Hatijah Ayob, Nathorn Chaiyakunapruk

    Diterbitkan 2022-01-01
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  9. 9
    Rare disease in Malaysia: Challenges and solutions.

    Rare disease in Malaysia: Challenges and solutions. oleh Asrul Akmal Shafie, Azuwana Supian, Mohamed Azmi Ahmad Hassali, Lock-Hock Ngu, Meow-Keong Thong, Hatijah Ayob, Nathorn Chaiyakunapruk

    Diterbitkan 2020-01-01
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  10. 10
    Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients

    Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients oleh Lip Hen Moey, Nor Azimah Abdul Azize, Yusnita Yakob, Huey Yin Leong, Wee Teik Keng, Bee Chin Chen, Lock Hock Ngu

    Diterbitkan 2018-08-01
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  11. 11
    Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

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

    Diterbitkan 2023-08-01
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  12. 12
    Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

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

    Diterbitkan 2019-06-01
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  13. 13
    SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.

    SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China. oleh Yuan-Zong Song, Zhan-Hui Zhang, Wei-Xia Lin, Xin-Jing Zhao, Mei Deng, Yan-Li Ma, Li Guo, Feng-Ping Chen, Xiao-Ling Long, Xiang-Ling He, Yoshihide Sunada, Shun Soneda, Akiko Nakatomi, Sumito Dateki, Lock-Hock Ngu, Keiko Kobayashi, Takeyori Saheki

    Diterbitkan 2013-01-01
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