Article
Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.
Molecular genetics and metabolism - 1 Aug 2026
Yılmaz-Gümüş Emel, Kılavuz Sebile, Demir Şenol, Aydoğan Ayça, Genç Emine, Akar Halil Tuna, Akbeyaz İsmail Hakkı, Çakar Nafiye Emel, Er Esra, Gülbahçe Aliye, Güneş Hatice, Kardaş Fatih, Kılıç Mustafa, Teke-Kısa Pelin, Koşukcu Can, Önal Hasan, Taş İbrahim, Türkdoğan Dilşad, Dursun Ali, Öztürk-Hişmi Burcu
Abstract excerpt
BACKGROUND: NGLY1 deficiency is an ultra-rare multisystem disorder characterized by developmental delay, hyperkinetic movement disorder, hypo-/alacrimia, peripheral neuropathy, and elevated transaminases. METHODS: We conducted a multicenter retrospective study including 15 patients from 11 families to evaluate the clinical, biochemical, and molecular features of the disease. A literature review was also...
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