Results 71 to 80 of about 888 (137)

Canavan's spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature. [PDF]

J Ultrasound, 2023
Rossler L, Lemburg S, Weitkämper A, Thiels C, Hoffjan S, Nguyen HP, Lücke T, Heyer CM.   +7 more
europepmc   +1 more source

Discovery of <i>N</i>-Acetyltransferase 8-Like (NAT8L) inhibitors based on a <i>N</i>-Acylated (Piperidin-3-ylmethyl)-1,2,4-Oxadiazole Scaffold. [PDF]

ACS Med Chem Lett
Nayeen MJ, Thomas AG, Kundu B, Carlyle E, Hin N, Hin P, Pal A, Paule J, Rais R, Slusher BS, Tsukamoto T.   +10 more
europepmc   +1 more source

Glutamatergic Neurotransmission Disruption as a Pathomechanism of Brain Damage in Disorders of Amino Acid and Organic Acid Metabolism: Insights from Animal and Cellular Studies. [PDF]

Neurochem Res
Marcuzzo MB, Benati MPDV, Souza DO, Wajner M, Leipnitz G.   +4 more
europepmc   +1 more source

Deeper Than the Metabolite: A Novel Genetic Mutation in an Indian Child With Glutaric Aciduria Type 1. [PDF]

Cureus
Srivastava P, Biswal SS, Kumar R, Swaroop S, Tanti SK.   +4 more
europepmc   +1 more source

Human iPSC-derived neural progenitor cells rescue motor function and brain pathology in symptomatic Canavan disease mice. [PDF]

Stem Cell Reports
Jackson N, Feng L, Chao J, Ye P, Luong Q, Galo K, Sun G, Hu W, Shi Y.   +8 more
europepmc   +1 more source

Lithium deficiency and the onset of Alzheimer's disease. [PDF]

Nature
Aron L, Ngian ZK, Qiu C, Choi J, Liang M, Drake DM, Hamplova SE, Lacey EK, Roche P, Yuan M, Hazaveh SS, Lee EA, Bennett DA, Yankner BA.   +13 more
europepmc   +1 more source

Restoring Function in Pediatric Neurodegeneration: The Impact of Radio Electric Asymmetric Conveyor Neuroregenerative Treatment in a Child With Canavan Syndrome. [PDF]

Cureus
Fontani V, Rinaldi A, Rinaldi S.
europepmc   +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

Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease. [PDF]

Mol Syndromol
Yalcintepe S, Maras T, Kizilyar I, Sezginer Guler H, Zhuri D, Atli E, Ozen Y, Gurkan H.   +7 more
europepmc   +1 more source