Anna Malekkou
Nicosia, Cyprus
Last Updated: 09/26/2026
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Found 8 publications
YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria.
Journal: Journal of inherited metabolic disease
Published: November 15, 2024
A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics.
Journal: Molecular genetics and metabolism reports
Published: September 23, 2024
Inherited metabolic disorders in Cyprus.
Journal: Molecular genetics and metabolism reports
Published: February 09, 2024
A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.
Journal: BMC medical genomics
Published: October 31, 2023
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Journal: Molecular genetics and metabolism reports
Published: June 07, 2023
Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content.
Journal: International journal of molecular sciences
Published: January 27, 2020
A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease.
Journal: Molecular genetics & genomic medicine
Published: August 28, 2019
Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.
Journal: International journal of molecular sciences
Published: August 14, 2018
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Last Updated: 09/26/2026