Results 131 to 140 of about 3,887 (227)

Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I. [PDF]

Acta Neuropathol Commun, 2014
Zinnanti WJ, Lazovic J, Housman C, Antonetti DA, Koeller DM, Connor JR, Steinman L.   +6 more
europepmc   +1 more source

Glutaric aciduria type I : A case report

Indian Journal of Radiology and Imaging, 2006
S Singh, V Chowdhury, R Dixit, A Prakash, A Agarwal   +4 more
openaire   +1 more source

A Tale of Treatable Infantile Neuroregression and Diagnostic Dilemma with Glutaric Aciduria Type I.

J Pediatr Neurosci, 2017
Yoganathan S, Varman M, Oommen SP, Thomas M.   +3 more
europepmc   +1 more source

"Batwings dilatation" of sylvian fissures in glutaric aciduria type I

Annals of Indian Academy of Neurology, 2007
Ashraf V, Sudha K
doaj  

Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I. [PDF]

BBA Clin, 2014
Janssen M, Kluijtmans L, Wortmann SB.
europepmc   +1 more source

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

Brain : a journal of neurology, 2009
I. Harting, E. Neumaier-Probst, A. Seitz, E. Maier, B. Assmann, I. Barić, M. Troncoso, C. Mühlhausen, J. Zschocke, N. Boy, G. Hoffmann, S. Garbade, S. Kölker   +12 more
semanticscholar   +1 more source

Neurocognitive characterization and academic impact in pediatric patients belonging to the national registry of GA-1. [PDF]

Orphanet J Rare Dis
Berta ZC, Zaida MR, de Aragón Ana M, Noemí NE, Manuela MB, Raquel V, Delia B, Marcello B, Elena MH, Pilar QF.   +9 more
europepmc   +1 more source

Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I.

Brain : a journal of neurology, 2011
S. Sauer, S. Opp, G. Hoffmann, D. Koeller, J. Okun, S. Kölker   +5 more
semanticscholar   +1 more source

Glutaric aciduria type I

, 2013
openaire   +1 more source

Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation. [PDF]

JIMD Rep, 2015
Fraidakis MJ, Liadinioti C, Stefanis L, Dinopoulos A, Pons R, Papathanassiou M, Garcia-Villoria J, Ribes A.   +7 more
europepmc   +1 more source