日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Clinical and Genetic Characterization of Isolated Methylmalonic Acidemia in Malaysian Children: Identification of Two Novel MMUT Variants

马来西亚儿童孤立性甲基丙二酸血症的临床和遗传特征：两种新型MMUT变异体的鉴定

期刊:Diagnostics
影响因子:3.3
doi:10.3390/diagnostics16050755
Masri, Mardhiah; Khalid, Norzahidah; Salleh, Noornatisha; Lua, Seok-Hian; Abdul Azize, Nor Azimah; Yakob, Yusnita; Ali, Ernie Zuraida; Munusamy, Vani A/P; Ngu, Lock-Hock; Lee, Jeffrey Soon-Yit; Toh, Teck-Hock; Habib, Anasufiza
多发性骨髓瘤
发表日期：2026
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Multi-Omics Characterization of a Novel SSR4 Variant in Congenital Disorders of Glycosylation

先天性糖基化障碍中新型SSR4变异的多组学表征

期刊:Metabolites
影响因子:3.7
doi:10.3390/metabo15120786
Abu Bakar, Nurulamin; Hamzan, Nurul Izzati; Majawit, Elyssa Milus; Ahmad Ridzuan, Siti Nurwani; Hassan, Noor Hafizah; Habib, Anasufiza; Ngu, Lock-Hock
发表日期：2025
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Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion Baby

全羧化酶合成酶缺乏症：五例马来西亚患者的临床、生化和分子学发现，其中包括一名表现为火棉胶婴儿的新生儿

期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.70006
Ting, Siew Li; Yakob, Yusnita; Sani, Huzaimah Abdullah; Rethanavelu, Kavitha; Ngu, Lock Hock
发表日期：2025
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Perceptions of patients and caregivers toward the management of rare disease in Malaysia: a qualitative research study

马来西亚罕见病患者及其照护者对罕见病管理的看法：一项定性研究

期刊:International Journal of Technology Assessment in Health Care
影响因子:3.1
doi:10.1017/S0266462324000333
Supian, Azuwana; Shafie, Asrul A; Ngu, Lock-Hock; Ayob, Hatijah; Chaiyakunapruk, Nathorn
发表日期：2024
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Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

17名马来西亚婴儿型庞贝病患者的基因型、表型和治疗结果，以及3种新的GAA变异体的鉴定

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-023-02848-6
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
发表日期：2023
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Myoclonus-Ataxia Syndrome Associated with Hyperprolinemia Type I

肌阵挛-共济失调综合征伴高脯氨酸血症 I 型

期刊:Movement Disorders Clinical Practice
影响因子:2.7
doi:10.1002/mdc3.13780
Ong, Tien Lee; Lau, Yue Hui; Ngu, Lock Hock; Hadi, Dianah; Lau, Keng Ming; Mawardi, Ahmad Shahir
发表日期：2023
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Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series

两例青少年MPS II患者长期使用艾杜硫酶β（Hunterase）的经验：病例系列研究

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2023.100991
Chan, Mei-Yan; Nelson, Andrew Jack; Ngu, Lock-Hock
发表日期：2023
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Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia

马来西亚13例糖原贮积症1a型患者的分子、生化和临床特征分析

期刊:Genetics Research
影响因子:2.1
doi:10.1155/2022/5870092
Abdul Wahab, Siti Aishah; Yakob, Yusnita; Mohd Khalid, Mohd Khairul Nizam; Ali, Noraishah; Leong, Huey Yin; Ngu, Lock Hock
发表日期：2022
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Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation

神经系统瓦尔登堡-沙赫综合征：皮肤色素减退伴神经系统表现患儿的诊断挑战

期刊:BMJ Case Reports
影响因子:0.5
doi:10.1136/bcr-2022-250360
Ng, Benjamin Wei-Liang; Lee, Jeffrey Soon-Yit; Toh, Teck-Hock; Ngu, Lock-Hock
发表日期：2022
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Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa

膜酶界面磷脂酰肌醇4-激酶2α型（PI4K2A）的新缺陷与代谢性皮肤松弛症相关

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12255
Mohamed, Miski; Gardeitchik, Thatjana; Balasubramaniam, Shanti; Guerrero-Castillo, Sergio; Dalloyaux, Daisy; van Kraaij, Sanne; Venselaar, Hanka; Hoischen, Alexander; Urban, Zsolt; Brandt, Ulrich; Al-Shawi, Raya; Simons, J Paul; Frison, Michele; Ngu, Lock-Hock; Callewaert, Bert; Spelbrink, Hans; Kallemeijn, Wouter W; Aerts, Johannes M F G; Waugh, Mark G; Morava, Eva; Wevers, Ron A
信号转导
代谢
发表日期：2020
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