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Global developmental delay with psychotic disorder at onset of late-infantile form of Niemann-Pick disease type C: A case report

Niemann-Pick disease type C (NP-C) is a rare, progressive, autosomal recessive neurodegenerative disorder with onset at various ages, caused by pathogenic variants in the NPC1 or NPC2 genes. In the late-infantile form of NP-C, the development of psychotic symptoms at onset or during the course of th...

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Autors principals: Dmitriy V. I, Tatiana N. Proskokova
Format: Artigo
Idioma:Russo
Publicat: MONIKI 2026-01-01
Col·lecció:Alʹmanah Kliničeskoj Mediciny
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Accés en línia:https://almclinmed.ru/jour/article/viewFile/17557/1778
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