Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials

Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials

Rationale: Loss-of-function (LoF) mutations in GRIN2B result in neurologic abnormalities due to N-methyl-D-aspartate receptor (NMDAR) dysfunction. Affected persons present with various symptoms, including intellectual developmental disability (IDD), hypotonia, communication deficits, motor impairmen...

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Bibliographic Details
Main Authors: Bibiche den Hollander, Marieke Rothuizen-Lindenschot, Lisa Geertjens, Frédéric M. Vaz, Marion M. Brands, Hoang Lan Le, Agnies M. van Eeghen, Peter M. van de Ven, Martina C. Cornel, Bart A.W. Jacobs, Hilgo Bruining, Clara D. van Karnebeek
Format: Article
Language:English
Published: Elsevier 2023-12-01
Series:Contemporary Clinical Trials Communications
Subjects:
GRIN2B1
L-serine2
Intellectual developmental disability3
N-methyl-D-aspartate receptor4
Personalized medicine5
n-of-16
Online Access:http://www.sciencedirect.com/science/article/pii/S2451865423001795

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http://www.sciencedirect.com/science/article/pii/S2451865423001795

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