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Article

Early prediction of phenotypic severity in Citrullinemia Type 1

30 Aug 2019

Abstract excerpt

OBJECTIVE: Citrullinemia type 1 (CTLN1) is an inherited metabolic disease affecting the brain which is detectable by newborn screening. The clinical spectrum is highly variable including individuals with lethal hyperammonemic encephalopathy in the newborn period and individuals with a mild-to-moderate or asymptomatic disease course. Since the phenotypic severity has not been predictable early during the disease...

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PMID: 31469252
DOI: 10.1002/acn3.50886

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