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Chronic acid sphingomyelinase deficiency diagnosed in infancy/childhood in Polish patients: 2024 update.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University - 1 Oct 2024

Lipiński Patryk, Ługowska Agnieszka, Tylki-Szymańska Anna

Abstract excerpt

BACKGROUND: Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive lysosomal storage disease (LSD) associated with biallelic pathogenic variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene. OBJECTIVES: The aim of this study was to provide the 2024 update on chronic visceral and neurovisceral ASMD diagnosed in the infancy/childhood in Polish patients. MATERIAL AND METHODS: All the patients...

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PMID: 39441731
DOI: 10.17219/acem/193696

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