Author
Akimi Ishikawa
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Recent research
Fatal Dilated Cardiomyopathy and Monogenic Diabetes Mellitus as SMPD4 ‐Related Disorder
ABSTRACT Sphingomyelin phosphodiesterase 4 (SMPD4)‐related disorder is a rare neurodevelopmental disorder caused by biallelic loss‐of‐function variants in SMPD4, characterized primarily by severe neurological manifestations. A subset of long‐term survivors develops diabetes melli...