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Autor:
Rachel D. Torok MD, Stephanie L. Austin MS, Lisa K. Britt RDCS, Jose E. Abdenur MD, Priya S. Kishnani MD, Stephanie B. Wechsler MD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)
Pulmonary arterial hypertension (PAH) is a rare and highly fatal disease that has been reported in 8 patients with glycogen storage disease type I (GSDI). We describe an additional case of an acute presentation of PAH in a 14-year-old patient with GS
Externí odkaz:
https://doaj.org/article/8287655a6170433fb601987799afaa60