Results 191 to 200 of about 5,871 (233)

Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions

European Journal of Pediatrics, 1997
Infants with macrocephaly, young children with acute disease resembling encephalitis, and children with truncal hypotonia, ataxia, or dystonia may be affected by glutaric aciduria type I (GA 1, glutaryl-CoA-dehydrogenase deficiency), a not-so-rare autosomal recessive neurometabolic disease.
A. Superti-Furga, G. F. Hoffmann
openaire   +1 more source

First Trimester Prenatal Exclusion of Glutaryl‐CoA Dehydrogenase Deficiency (Glutaric Aciduria Type 1)

Journal of Inherited Metabolic Disease, 1989
Glutaryl-CoA dehydrogenase (GDH: EC 1.3.99.7) deficiency, glutaric aciduria type 1 (GA1; McKusick 23167) is an autosomal recessively inherited inborn error of lysine and tryptophan catabolism. The first case was described in the USA by Goodman et al. in 1975.
openaire   +2 more sources

Integrative oncology: Addressing the global challenges of cancer prevention and treatment

Ca-A Cancer Journal for Clinicians, 2022
Jun J Mao,, Msce, Lorenzo Cohen, Karen M Mustian   +2 more
exaly  

Glutaryl-CoA dehydrogenase

1993
Dietmar Schomburg, Margit Salzmann, Dörte Stephan   +2 more
openaire   +1 more source

Glutaryl-CoA Dehydrogenase Deficiency

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

Glutaric aciduria: Inherited deficiency of glutaryl-CoA dehydrogenase activity

Biochemical Medicine, 1975
S I, Goodman, J G, Kohlhoff
openaire   +2 more sources

Synthesis of Substrate Analogs for Glutaryl-CoA Dehydrogenase: 3-Thia-Glutaryl-CoA and 4-Nitrobutyryl-CoA

Microchemical Journal, 1997
Patricia L. Kultgen, Leonard Edwards, Jr., Colleen M. Byron   +2 more
openaire   +1 more source

Early signs and course of disease of glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 1995
Hoffmann GF, Bohles HJ, Burlina A, Duran M, Herwig J, Lehnert W, Leonard JV, Muntau A, Plecko-Starting PK, Superti-Furga A, Trefz FK, Christensen E   +11 more
openaire   +3 more sources

Obesity and adverse breast cancer risk and outcome: Mechanistic insights and strategies for intervention

Ca-A Cancer Journal for Clinicians, 2017
Cynthia Morata-Tarifa, Joyce M Slingerland   +1 more
exaly  

Multidisciplinary standards of care and recent progress in pancreatic ductal adenocarcinoma

Ca-A Cancer Journal for Clinicians, 2020
Aaron J Grossberg, William L Hwang, Anirban Maitra   +2 more
exaly