Associated Papers
An Unusual Cause of Hexokinase 1 Deficiency-Case Report.
Kilich G et al.
Ejhaem, 2025
A Novel Pathogenic Sense Variant in Exon 7 of the HK1 Gene in a Patient with Hexokinase Deficiency and Gilbert Syndrome.
Bartnik M et al.
Genes, 2024
Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review.
Ukonmaanaho EM et al.
British Journal of Haematology, 2024
HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family.
Sasaki E et al.
Clinical Genetics, 2022
Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family.
Dongerdiye R et al.
Journal of Clinical Pathology, 2021
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
Okur V et al.
European Journal of Human Genetics : Ejhg, 2019
Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1.
Koralkova P et al.
Blood Cells, Molecules & Diseases, 2016
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