KARS‐related diseases with macrothrombocytes and pulmonary arterial hypertension.

Autor:	Wada, Mako Kimura, Fukuhara, Yasuyuki, Hayakawa, Itaru, Kaname, Tadashi, Ishiguro, Akira
Předmět:	DIAGNOSIS of brain diseases PULMONARY arterial hypertension GENETIC mutation BLOOD platelets DEVELOPMENTAL disabilities MAGNETIC resonance imaging WHITE matter (Nerve tissue) ENZYMES CEREBELLUM diseases GLOBOID cell leukodystrophy GENOMICS COMPUTED tomography
Zdroj:	Pediatrics International; Jan-Dec2023, Vol. 65 Issue 1, p1-3, 3p
Abstrakt:	The article presents the case studies of KARS-related diseases, a rare genetic condition associated with lysyl-transfer RNA synthetase abnormalities. It is reported that the cases involve pediatric patients with severe sensorineural deafness, developmental delay, and unique hematological manifestations such as thrombocytopenia with macrothrombocytes. It underscores the importance of considering KARS-related diseases in cases with brain calcifications and hematological or pulmonary issues.
Databáze:	Complementary Index
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