Acid Sphingomyelinase Deficiency in an Adult with Unexplained Splenomegaly Despite Negative SMPD1 Sequencing: A Case Report

Cinli, Tahir Alper; Akman İlik, Zehra

Acid Sphingomyelinase Deficiency in an Adult with Unexplained Splenomegaly Despite Negative SMPD1 Sequencing: A Case Report [Turk J Hematol]

Turk J Hematol. Ahead of Print: TJH-20599 | DOI: 10.4274/tjh.galenos.2026.20599

Acid Sphingomyelinase Deficiency in an Adult with Unexplained Splenomegaly Despite Negative SMPD1 Sequencing: A Case Report

Tahir Alper Cinli¹, Zehra Akman İlik²
¹University of Health Sciences Türkiye, Başakşehir Çam and Sakura City Hospital, Clinic of Hematology, İstanbul, Türkiye
²Van Yüzüncü Yıl University University Faculty of Medicine, Department of Pathology, Van, Türkiye

Keywords: Acid Sphingomyelinase Deficiency, Niemann-Pick Disease, Type B, Splenomegaly, Bone Marrow

Negatif SMPD1 Dizilemesine Rağmen Açıklanamayan Splenomegalisi Olan Erişkin Bir Hastada Asit Sfingomiyelinaz Eksikliği: Olgu Sunumu

Tahir Alper Cinli¹, Zehra Akman İlik²
¹Başaksehir Çam ve Sakura Şehir Hastanesi, Hematology Kliniği, İstanbul, Turkey
²Van Yüzüncü Yıl Üniversitesi, Pathology Ana Bilim Dalı,Van,Türkiye

Anahtar Kelimeler: Asit Sfingomiyelinaz Eksikliği, Niemann-Pick Hastalığı, Tip B, Dalak Büyümesi, Kemik İliği

Corresponding Author: Tahir Alper Cinli, Türkiye
Manuscript Language: English

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