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Expanding the genotypic spectrum of 3β-hydroxy-δ5-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes

Celik, Merve Yoldas; Koseci, Burcu; Burgac, Ezgi; Garip, Sevinc; Varol, Fatma Ilknur; Gungor, Suekrue; Taskin, Didem Gulcu (Walter De Gruyter Gmbh, 2025)

Objectives: HSD3B7 deficiency is a genetic disorder caused by mutations in the HSD3B7 gene, leading to impaired bile acid synthesis and the accumulation of toxic intermediates. Affected patients typically present with ...
GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases

Celik, Merve Yoldas; Koseci, Burcu; Burgac, Ezgi; Yararbas, Kanay (Elsevier, 2025)

GM2 activator deficiency (AB variant of GM2 gangliosidosis) is an ultra-rare autosomal recessive lysosomal storage disorder caused by pathogenic GM2A mutations. The loss of a functional GM2 activator protein disrupts GM2 ...