A rare but treatable inborn error of metabolism: Arginine:glycine amidinotransferase (AGAT) deficiency
AGAT deficiency is a rare and treatable autosomal recessive disorder. The symptoms are early-onset developmental mild to moderate intellectual disability, delayed speech acquisition, behavioral problems or proximal muscle weakness. Biochemical screening for creatine, creatinine and urinary guanidino...
Main Authors: | Sebastian Romeo Pintilie, Adriana Fodor, Marius Bembea, Codruta Diana Petchesi, Simona Grad, Laura Damian, Romana Vulturar |
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Format: | Article |
Language: | English |
Published: |
Amaltea Medical Publishing House
2022-05-01
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Series: | Romanian Journal of Pediatrics |
Subjects: | |
Online Access: | https://rjp.com.ro/articles/2021.3/RJP_2021_3_Art-04.pdf |
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