Associated Papers
Clinical and Biochemical Analysis of Glutamate-Cysteine Ligase Deficiency Presented with Late-Onset Spinocerebellar Ataxia and Hemolytic Anemia.
Al-Hatou M et al.
Molecular Syndromology, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12
Clinical and molecular characterization of 6 children with glutamate-cysteine ligase deficiency causing hemolytic anemia.
Almusafri F et al.
Blood Cells, Molecules & Diseases, 2017
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