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...

Descripción completa

Detalles Bibliográficos
Autores principales: Modi, Bhavi P., Khan, Haq Nawaz, van der Lee, Robin, Wasim, Muhammad, Haaxma, Charlotte A., Richmond, Phillip A., Drögemöller, Britt, Shah, Suleman, Salomons, Gajja, van der Kloet, Frans M., Vaz, Fred M., van der Crabben, Saskia N., Ross, Colin J., Wasserman, Wyeth W., van Karnebeek, Clara D.M., Awan, Fazli Rabbi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8093930/
https://www.ncbi.nlm.nih.gov/pubmed/33996490
http://dx.doi.org/10.1016/j.ymgmr.2021.100761

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8093930/
https://www.ncbi.nlm.nih.gov/pubmed/33996490
http://dx.doi.org/10.1016/j.ymgmr.2021.100761

Ejemplares similares