Results 141 to 150 of about 13,220 (172)

X-Linked Creatine Transporter Deficiency Presenting as a Mitochondrial Disorder

Journal of Child Neurology, 2010
X-linked creatine transporter defect is caused by mutations in SLC6A8 at Xq28, which encodes the sodium-dependent creatine transporter. Reduction in creatine uptake results in elevated urine creatine and CSF creatine deficiency, which can be detected on magnetic resonance spectroscopy.
Hathaway, S.C., Friez, M., Limbo, K., Parker, C., Salomons, G.S., Vockley, J., Wood, T., Abdul-Rahman, O.A.   +7 more
openaire   +4 more sources

SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations

Molecular Genetics and Metabolism
Creatine transporter deficiency has been described with normal or uninformative levels of creatine and creatinine in plasma, while urine has been the preferred specimen type for biochemical diagnosis. We report a cohort of untreated patients with creatine transporter deficiency and abnormal plasma creatine panel results, characterized mainly by ...
Karen, Sanders, Dawn, Peck, Gisele, Bentz Pino, April, Studinski Jones, Amy, White, Dimitar, Gavrilov, Dietrich, Matern, Devin, Oglesbee, Matthew, Schultz, Silvia, Tortorelli, Patricia L, Hall   +10 more
openaire   +2 more sources

Creatine transporter deficiency in two adult patients with static encephalopathy

Journal of Inherited Metabolic Disease, 2009
SummaryCreatine transporter deficiency is a recently identified X‐linked inborn error of metabolism. The natural course of the disease is not well delineated since clinical data from adult patients have scarcely been reported. A progressive course of the disease has been noted in a few described cases.
Sempere A, Fons C, Arias A, Rodríguez-Pombo P, Colomer R, Merinero B, Alcaide P, Capdevila A, Ribes A, Artuch R, Campistol J   +10 more
openaire   +3 more sources

Arginine, glycine, and creatine supplementation improves symptoms in a female with creatine transporter deficiency

Psychiatric Genetics
X-linked creatine transporter deficiency is caused by hemizygous or heterozygous pathogenic variants in SLC6A8 that cause neuropsychiatric symptoms because of impaired uptake of creatine into tissues throughout the body. Small cohorts have suggested that supplementation of creatine, arginine, and glycine can stop disease progression in males, but only ...
Kara, Tauer, Caroline, Theile, Joshua W, Owens, Kim M, Cecil, Amelle, Shillington   +4 more
openaire   +2 more sources

Epilepsy spectrum in cerebral creatine transporter deficiency

Epilepsia, 2009
Fons, C., Sempere, A., Sanmarti, F.X., Arias, A., Poo, P., Pineda, M., Ribes, A., Merinero, B., Vilaseca, M.A., Salomons, G.S., Artuch, R., Campistol, J.   +11 more
openaire   +4 more sources

Creatine Transporter Deficiency

2009
Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Michael Trauner, Michael Trauner, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Lee A. Denson, Frank Lammert, Tilman Sauerbruch, Lee A. Denson, Peter L. M. Jansen, Peter L. M. Jansen, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Alexander K. C. Leung, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Alexander A. C. Leung, Patrick T. S. Ma, Alexander K. C. Leung, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch   +199 more
openaire   +1 more source

Taurine deficiency as a driver of aging

Science, 2023
Parminder Singh, , Stefano Mangiola
exaly  

MLH1 Deficiency-Triggered DNA Hyperexcision by Exonuclease 1 Activates the cGAS-STING Pathway

Cancer Cell, 2021
Junhong Guan, Changzheng Lu, Huiming Lu
exaly  

Exhaustion-associated cholesterol deficiency dampens the cytotoxic arm of antitumor immunity

Cancer Cell, 2023
Chenqi Xu
exaly  

Poly(ADP-Ribose) polymerase (PARP) inhibitors: Exploiting a synthetic lethal strategy in the clinic

Ca-A Cancer Journal for Clinicians, 2011
Timothy A Yap, Johann Sebastian de Bono
exaly