Pegzilarginase in Arginase 1 Deficiency: Clinical and Biochemical Effects of Treatment Initiation, Discontinuation and Re-Initiation

Background: Arginase 1 deficiency (ARG1-D) is an ultra-rare urea cycle disorder characterized by hyperargininemia and progressive neurological impairment, including spasticity, loss of motor function, and reduced quality of life. Conventional management based on dietary protein restriction and ammon...

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Библиографические подробности

Главные авторы:	Martha Caterina Faraguna, Viola Crescitelli, Roberta Pretese, Maria Valvassori Bolgè, Vera Marchetti, Giusi Sgroi, Stefania Sala, Silvia Gigante, Cristina Bonfanti, Adriana Balduzzi, Serena Gasperini
Формат:	Artigo
Язык:	Inglês
Опубликовано:	MDPI AG 2026-04-01
Серии:	Children
Предметы:	arginase 1 deficiency pegzilarginase recombinant human arginase 1 enzyme urea cycle disorder progressive spasticity
Online-ссылка:	https://www.mdpi.com/2227-9067/13/5/610
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