Publications by authors named "Ngu Lock-Hock"

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Multi-Omics Characterization of a Novel Variant in Congenital Disorders of Glycosylation.
Nurulamin Abu Bakar, Nurul Izzati Hamzan, Elyssa Milus Majawit, Siti Nurwani Ahmad Ridzuan, Noor Hafizah Hassan, Lock-Hock Ngu

Metabolites· December 2025

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Early Mortalities From Inborn Errors of Metabolism Detected By Selective Screening in Malaysia.
Anasufiza Habib, Nur Aisyah Abdul Malik, Azzah Hana Abu Yamin, Salina Abdul Rahman, Saraswathy Apparow

Sage Open Pediatr· April 2025

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Cost-Effectiveness Analysis of Idursulfase for the Long-Term Treatment of Hunter Syndrome Using a Partitioned-Survival Model Approach in R.
Khairu Hazwan Mustaffa, Asrul Akmal Shafie, Lock-Hock Ngu, Rowani Mohd-Rawi

Value Health Reg Issues· March 2025

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Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion Baby.
Siew Li Ting, Yusnita Yakob, Huzaimah Abdullah Sani, Kavitha Rethanavelu, Lock Hock Ngu

JIMD Rep· March 2025

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CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.
Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, Kathleen Rooney, Sadegheh Haghshenas, Ngu Lock-Hock

HGG Adv· January 2025

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Clinical, biochemical, molecular characteristics and clinical outcome of hyperhomocysteinemia in Malaysian children.
Anasufiza Habib, Hamizah Idrus, Nur Aisyah Abdul Malik, Ainna Mohd Nor, Sofwatul Muktaroh Nasohah

Clin Biochem· December 2024

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Perceptions of patients and caregivers toward the management of rare disease in Malaysia: a qualitative research study.
Azuwana Supian, Asrul A Shafie, Lock-Hock Ngu, Hatijah Ayob, Nathorn Chaiyakunapruk

Int J Technol Assess Health Care· October 2024

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

Mol Genet Metab Rep· September 2023

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Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Ali Alghamdi, Yair Anikster

Mol Genet Metab· August 2023

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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.
Mei-Yan Chan, Julaina Abdul Jalil, Yusnita Yakob, Siti Aishah Abdul Wahab, Ernie Zuraida Ali, Lock-Hock Ngu

Orphanet J Rare Dis· August 2023

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Myoclonus-Ataxia Syndrome Associated with Hyperprolinemia Type I.
Tien Lee Ong, Yue Hui Lau, Lock Hock Ngu, Dianah Hadi, Keng Ming Lau

Mov Disord Clin Pract· August 2023

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Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Ali Alghamdi, Yair Anikster

Mol Genet Metab· July 2023

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Xeroderma pigmentosum in a Malaysian child with identification of a novel homozygous nonsense mutation in XPC c.2167C>T.
Henrietta Albela, Lock-Hock Ngu, Kin Fon Leong

Int J Dermatol· September 2022

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

Genet Res (Camb)· September 2022

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

Asian Nurs Res (Korean Soc Nurs Sci)· August 2022

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

PLoS One· August 2022

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Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation.
Benjamin Wei-Liang Ng, Jeffrey Soon-Yit Lee, Teck-Hock Toh, Lock-Hock Ngu

BMJ Case Rep· June 2022

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

J Mov Disord· May 2022

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Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.
Anasufiza Habib, Nor Azimah Abdul Azize, Salina Abd Rahman, Yusnita Yakob, Vengadeshwaran Suberamaniam, Ngu Lock-Hock

Clin Biochem· December 2021

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Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, Satoko Miyatake, Kohei Hamanaka, Lock-Hock Ngu

Hum Mutat· January 2021

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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.
Miski Mohamed, Thatjana Gardeitchik, Shanti Balasubramaniam, Sergio Guerrero-Castillo, Daisy Dalloyaux, Lock-Hock Ngu

J Inherit Metab Dis· November 2020

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The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.
Mohamed A Elmonem, Amaya Belanger-Quintana, Andrea Bordugo, Ritma Boruah, Elisenda Cortès-Saladelafont, Lock-Hock Ngu

Mol Genet Metab· November 2020

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De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.
Mitsuko Nakashima, Mitsuhiro Kato, Masaru Matsukura, Ryutaro Kira, Lock-Hock Ngu

J Hum Genet· September 2020

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

PLoS One· July 2020

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Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
M Mardhiah, Nor Azimah Abdul Azize, Yusnita Yakob, O Affandi, Ngu Lock Hock

Mol Genet Metab Rep· March 2020

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