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Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara; Longo, Nicola; Korenke, G. Christoph; Mercimek-Mahmutoglu, Saadet; Marquart, Iris; Barshop, Bruce; Grolik, Christiane; Schlune, Andrea; Angle, Brad; Araujo, Helena Caldeira; Coskun, Turgay; Diogo, Luisa; Geraghty, Michael; Haliloglu, Goknur; Konstantopoulou, Vassiliki; Leuzzi, Vincenzo; Levtova, Alina; MacKenzie, Jennifer; Maranda, Bruno; Mhanni, Aizeddin A.; Mitchell, Grant; Morris, Andrew; Newlove, Theresa; Renaud, Deborah; Scaglia, Fernando; Valayannopoulos, Vassili; van Spronsen, Francjan J.; Verbruggen, Krijn T.; Yuskiv, Nataliya; Nyhan, William; Schulze, Andreas Share Save
Metabolomics Reveals Signature of Mitochondrial Dysfunction in Diabetic Kidney Disease Sharma, Kumar; Karl, Bethany; Mathew, Anna V.; Gangoiti, Jon A.; Wassel, Christina L.; Saito, Rintaro; Pu, Minya; Sharma, Shoba; You, Young-Hyun; Wang, Lin; Diamond-Stanic, Maggie; Lindenmeyer, Maja T.; Forsblom, Carol; Wu, Wei; Ix, Joachim H.; Ideker, Trey; Kopp, Jeffrey B.; Nigam, Sanjay K.; Cohen, Clemens D.; Groop, Per-Henrik; Barshop, Bruce A.; Natarajan, Loki; Nyhan, William L.; Naviaux, Robert K. Share Save
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder Fu, Rong; Ceballos-Picot, Irene; Torres, Rosa J.; Larovere, Laura E.; Yamada, Yasukazu; Nguyen, Khue V.; Hegde, Madhuri; Visser, Jasper E.; Schretlen, David J.; Nyhan, William L.; Puig, Juan G.; O'Neill, Patrick J.; Jinnah, H. A. Share Save
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Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria Sloan, Jennifer L.; Johnston, Jennifer J.; Manoli, Irini; Chandler, Randy J.; Krause, Caitlin; Carrillo-Carrasco, Nuria; Chandrasekaran, Suma D.; Sysol, Justin R.; O'Brien, Kevin; Hauser, Natalie S.; Sapp, Julie C.; Dorward, Heidi M.; Huizing, Marjan; Barshop, Bruce A.; Berry, Susan A.; James, Philip M.; Champaigne, Neena L.; de Lonlay, Pascale; Valayannopoulos, Vassilli; Geschwind, Michael D.; Gavrilov, Dimitar K.; Nyhan, William L.; Biesecker, Leslie G.; Venditti, Charles P. Share Save
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Attenuated variants of Lesch-Nyhan disease Jinnah, H. A.; Ceballos-Picot, Irene; Torres, Rosa J.; Visser, Jasper E.; Schretlen, David J.; Verdu, Alfonso; Larovere, Laura E.; Chen, Chung-Jen; Cossu, Antonello; Wu, Chien-Hui; Sampat, Radhika; Chang, Shun-Jen; Dodelson de Kremer, Raquel; Nyhan, William; Harris, James C.; Reich, Stephen G.; Puig, Juan G. Share Save
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Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry Hartmann, S; Okun, JG; Schmidt, C; Langhans, CD; Garbade, SF; Burgard, P; Haas, D; Sass, JO; Nyhan, WL; Hoffmann, GF Share Save
Delineation of the motor disorder of Lesch-Nyhan disease Jinnah, HA; Visser, JE; Harris, JC; Verdu, A; Larovere, L; Ceballos-Picot, I; Gonzalez-Alegre, P; Neychev, V; Torres, RJ; Dulac, O; Desguerre, I; Schretlen, DJ; Robey, KL; Barabas, G; Bloem, BR; Nyhan, W; De Kremer, R; Eddey, GE; Puig, JG; Reich, SG Share Save
Pyruvate carboxylase deficiency - Insights from liver transplantation (vol 77, pg 143, 2002) Nyhan, WL; Khanna, A; Barshop, BA; Naviaux, RK; Precht, AF; Levine, JE; Hart, MA; Hainline, BE; Wappner, RS; Nichols, S; Haas, RD Share Save
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