Journal of pediatric endocrinology & metabolism : JPEMHumansMucolipidosesMaleFemaleMutation
Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.
Fehime Erdem, Ebru Canda, Havva Yazıcı, Rabia Eser, Merve Yoldaş Çelik, Selcan Keşan, Merve Saka Güvenç, Tahir Atik, İpek Tamsel, Hüseyin Onay, Sema Kalkan Uçar, Eser Yıldırım Sözmen, Mahmut Çoker
Published: 202510.1515/jpem-2025-0352
Abstract
OBJECTIVES: Mucolipidosis (ML) type II α/β (I-cell disease) and type III (Pseudo-Hurler polydystrophy) are rare autosomal recessive lysosomal storage disorders caused by mutations in the GNPTAB (ML III α/β) and GNPTG (ML III γ) genes, leading to impa…
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