Y Yakob-Yusnita
Shah Alam, 40170, Malaysia
Last Updated: 09/26/2026
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Found 28 publications
Plasma Aromatic L-Amino Acid Decarboxylase Activity by HPLC as a Functional Biomarker for the Diagnosis of Aromatic L-Amino Acid Decarboxylase Deficiency.
Journal: Metabolites
Published: May 15, 2026
Clinical and Genetic Characterization of Isolated Methylmalonic Acidemia in Malaysian Children: Identification of Two Novel MMUT Variants.
Journal: Diagnostics (Basel, Switzerland)
Published: November 07, 2025
Prevalence of lysosomal storage disease (LSD) in Malaysia.
Journal: The Malaysian journal of pathology
Published: August 29, 2025
Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion Baby.
Journal: JIMD reports
Published: January 06, 2025
Early Mortalities From Inborn Errors of Metabolism Detected By Selective Screening in Malaysia.
Journal: Sage open pediatrics
Published: June 13, 2024
Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene.
Journal: Clinical genetics
Published: September 06, 2023
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Journal: Molecular genetics and metabolism
Published: July 15, 2023
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Journal: Molecular genetics and metabolism
Published: March 14, 2023
Childhood interstitial lung disease: The end of a diagnostic odyssey.
Journal: Annals of the Academy of Medicine, Singapore
Published: November 01, 2022
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
Journal: Orphanet journal of rare diseases
Published: June 03, 2022
Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.
Journal: Clinical biochemistry
Published: July 14, 2021
Last Updated: 09/26/2026