Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient by Nataliya V. Zhurkova, Nato V. Vashakmadze, Andrey N. Surkov, Tatiana V. Turti, Kristina V. Bogdanova, Yuliya Yu. Kotalevskaya, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova

Subjects: Get full text

Two cases of type I sialidosis and a literature review by Yuan Ding, Ming Cheng, Chunxiu Gong

Subjects: Get full text

Sphingolipidoses and Retinal Involvement: A Comprehensive Review by Chiara Carrozzi, Daniele Fumi, Davide Fasciolo, Federico Di Tizio, Serena Fragiotta, Mariachiara Di Pippo, Solmaz Abdolrahimzadeh

Subjects: “…cherry-red spot…”
Get full text

GM2-gangliosidosis, type I (Tay – Sachs disease) in the pediatrician practice by Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Sukhanova, Olga B. Gordeeva, Natalia S. Sergienko, Ekaterina Yu. Zaharova

Subjects: “…macular pallor with prominence of fovea centralis (cherry red spot)…”
Get full text

GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases by Merve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, Kanay Yararbaş

Subjects: Get full text