Results 121 to 130 of about 2,664 (184)

Urine <i>N</i>-Acetylaspartate Distinguishes Phenotypes in Canavan Disease. [PDF]

Hum Gene Ther
Nagy A, Eichler F, Bley A, Bredow J, Fay A, Townsend EL, Leiro B, Shaywitz A, Laforet G, Crippen-Harmon D, Williams R.   +10 more
europepmc   +1 more source

Canavan Disease [PDF]

, 2019
openaire   +1 more source

Myelin lesion in the aspartoacylase (Aspa) knockout rat, an animal model for Canavan disease. [PDF]

Exp Anim
Takeda S, Hoshiai R, Tanaka M, Izawa T, Yamate J, Kuramoto T, Kuwamura M.   +6 more
europepmc   +1 more source

Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease. [PDF]

Mol Genet Metab
Posern C, Dreyer B, Maier SL, Eichler F, Gelb MH, Santer R, Bley A, Murko S.   +7 more
europepmc   +1 more source

Brain Nat8l Knockdown Suppresses Spongiform Leukodystrophy in an Aspartoacylase-Deficient Canavan Disease Mouse Model. [PDF]

Mol Ther, 2018
Bannerman P, Guo F, Chechneva O, Burns T, Zhu X, Wang Y, Kim B, Singhal NK, McDonough JA, Pleasure D.   +9 more
europepmc   +1 more source

Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model. [PDF]

Ann Neurol, 2015
Guo F, Bannerman P, Mills Ko E, Miers L, Xu J, Burns T, Li S, Freeman E, McDonough JA, Pleasure D.   +9 more
europepmc   +1 more source

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity. [PDF]

Hum Mutat, 2017
Mendes MI, Smith DE, Pop A, Lennertz P, Fernandez Ojeda MR, Kanhai WA, van Dooren SJ, Anikster Y, Barić I, Boelen C, Campistol J, de Boer L, Kariminejad A, Kayserili H, Roubertie A, Verbruggen KT, Vianey-Saban C, Williams M, Salomons GS.   +18 more
europepmc   +1 more source

Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease. [PDF]

JCI Insight, 2017
Gessler DJ, Li D, Xu H, Su Q, Sanmiguel J, Tuncer S, Moore C, King J, Matalon R, Gao G.   +9 more
europepmc   +1 more source

Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature. [PDF]

Orphanet J Rare Dis, 2016
Merrill ST, Nelson GR, Longo N, Bonkowsky JL.   +3 more
europepmc   +1 more source

Mild Canavan disease [PDF]

, 2020
openaire   +1 more source