Adult GAMT deficiency: A literature review and report of two siblings

Adult GAMT deficiency: A literature review and report of two siblings

Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency disorder and an inborn error of metabolism presenting with progressive intellectual and neurological deterioration. As most cases are identified and treated in early childhood, adult phenotypes that can help in understandi...

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Bibliographic Details
Main Authors: Bhavi P. Modi, Haq Nawaz Khan, Robin van der Lee, Muhammad Wasim, Charlotte A. Haaxma, Phillip A. Richmond, Britt Drögemöller, Suleman Shah, Gajja Salomons, Frans M. van der Kloet, Fred M. Vaz, Saskia N. van der Crabben, Colin J. Ross, Wyeth W. Wasserman, Clara D.M. van Karnebeek, Fazli Rabbi Awan
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Guanidinoacetate methyltransferase deficiency
GAMT
Adult cases
Progressive intellectual and neurological deterioration
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000550

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http://www.sciencedirect.com/science/article/pii/S2214426921000550

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