Výsledky vyhledávání - "Guanidinoacetate N-Methyltransferase/deficiency"

Mild guanidinoacetate increase under partial guanidinoacetate methyltransferase deficiency strongly affects brain cell development

Autor: Hugues Henry, Elidie Béard, Layane Hanna-El-Daher, Liliane Tenenbaum, Olivier Braissant

Publikováno v: Neurobiology of Disease, Vol 79, Iss, Pp 14-27 (2015)
Neurobiology of Disease, vol. 79, pp. 14-27

Among cerebral creatine deficiency syndromes, guanidinoacetate methyltransferase (GAMT) deficiency can present the most severe symptoms, and is characterized by neurocognitive dysfunction due to creatine deficiency and accumulation of guanidinoacetat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cf7687b863583faf1bb48442403ebc2
http://www.sciencedirect.com/science/article/pii/S0969996115001266

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AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review

Autor: Braissant, O., Henry, H.

Publikováno v: Journal of Inherited Metabolic Disease, vol. 31, no. 2, pp. 230-239

Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the brain, as measured by magnetic resonance spectroscopy. While the mammalian central nervous s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1900::f911dfd182fb8b72e3f3786f5a236cda
https://serval.unil.ch/notice/serval:BIB_F13D66EBFC62

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