Results 191 to 200 of about 12,812 (223)

Glutaric aciduria types I and II

Brain and Development, 2006
Glutaric aciduria type I is an autosomal recessive disorder resulting from a deficiency of glutaryl-CoA dehydrogenase. This leads to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitine deficiency. The symptomatology is discussed, especially those resulting from lesions in the basal ganglia, and the encephalopathic episodes ...
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Glutaric aciduria type II

Molecular and Chemical Neuropathology, 1996
1. Our patient has riboflavin-sensitive glutaric aciduria type II but with a very unusual presentation. None of the other patients we have seen (7 in all) have, for instance, presented with ataxia. 2. Glutaric aciduria type II can cause brain damage in spite of the absence of acute metabolic distress.
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Glutaric aciduria in two brothers

Journal of Inherited Metabolic Disease, 1978
N J, Brandt, N, Gregersen, E, Christensen, K, Rasmussen   +3 more
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Glutaric Aciduria Type I

2009
David J. Timson, Richard J. Reece, James B. Thoden, Hazel M. Holden, Andrea L. Utz, Beverly M. K. Biller, Eugen-Matthias Strehle, Markus Böhm, Thomas A. Luger, Alexander K. C. Leung, Andrew L. Wong, Markus G. Donner, Dieter Häussinger, Nirmal S. Mann, Marcus Schmitt, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Manisha Balwani, Ainu Prakash-Cheng*, Robert J. Desnick, Holger Lerche, Ingrid E. Scheffer, Samuel F. Berkovic, Brigitte M. Lobnig, Peter L. M. Jansen, Siegfried Waldegger, Florian Lang, Hugo ten Cate, Hagen Thieme, Michael Weller, Bärbel Schütte, Ronnie Fass, Hideki Kato, Masaomi Nangaku, Hideki Kato, Masaomi Nangaku, Anthony Chang, Pradeep V. Kadambi, Jessy J. Alexander, Pierre Ronco, Hanna Debiec, Christian Hugo, Brigitte M. Lobnig, Brigitte M. Lobnig, John-John B. Schnog, Victor E. A. Gerdes, Jean Francis, David S. Geller, Knut Brockmann, Dong Wang, Darryl C. Vivo, Stefan Kölker, Stefan Kölker, Elardus Erasmus, Lodewyk J. Mienie, John Vissing, Arnold Reuser, Catherine E. Correia, David A. Weinstein, Joseph I. Wolfsdorf, Yoon S. Shin, Reinout P. Hesselink, Maarten R. Drost, Anton J. M. Wagenmakers, Ger J. Vusse, Stefan Kiechl, Jonas Denecke, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Dianna C. Martin, Barbara L. Triggs-Raine, Seda Sancak, Ralf Paschke, Dorin-Bogdan Borza, Sonja Ständer, Heiko Traupe, Michael A. Becker, Hanneke M. Straaten, Leo F. Verdonck, Hugo Ten Cate, Martin Mempel, Dietrich Abeck, Ismat Ghanem, Samer El Hage, Johannes G. Bode, Thomas A. Fleisher, Steven M. Holland, Bennett Myers, David Herrmann, Zaki Kraiem, Yaron Tomer, Terry F. Davies, James G. White, Sylvia Stöckler-Ipsiroglu, Guido Stoll, Klaus V. Toyka, Valéria Lamounier-Zepter, Klaus Ruether   +99 more
openaire   +1 more source

Odd-chain dicarboxylic acid feeding recapitulates the biochemical phenotype of glutaric aciduria type 1 in mice

bioRxiv
Adam C. Richert, Yuxun Zhang, Sivakama S Bharathi, Abigail Hernandez, Tetyana Dodatko, J. Bons, Brandon Stauffer, Chunli Yu, B. Schilling, Sander M. Houten, Eric S. Goetzman   +10 more
semanticscholar   +1 more source

Glutaric aciduria (type I)

2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop   +3 more
openaire   +1 more source

CT in glutaric aciduria

Neurology, 1990
Rami Amit, Julia Berginer, Yehuda Shapira   +2 more
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Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement

Gene Therapy, 2023
Segur-Bailach, García-Villoria, del Rey, Guitart-Mampel, Cristina Fillat   +4 more
semanticscholar   +1 more source

Atypical Clinical and Neuroimaging Presentation of Glutaric Aciduria Type 1.

Pediatric Neurology
Gayatri R. Pawar, Mahesh Kamate, Virupaxi V. Hattiholi   +2 more
semanticscholar   +1 more source

Pattern induced seizures without photosensitivity in Glutaric aciduria

Journal of Neurological Sciences
S. T. Ananthasubramanian, E. Noel James, Viswanthan Lg, A. Asranna, R. Kenchaiah, Ravindranadh Cm, S. Sinha   +6 more
semanticscholar   +1 more source