Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.

Autor: Stockler-Ipsiroglu S; Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada. Electronic address: sstockler@cw.bc.ca., van Karnebeek C; Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada., Longo N; Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA., Korenke GC; Department of Pediatric Neurology, Children's Hospital Oldenburg, Germany., Mercimek-Mahmutoglu S; Department of Pediatrics, The Hospital for Sick Children, University of Toronto, ON, Canada., Marquart I; Department of Pediatric Neurology, Children's Hospital Oldenburg, Germany., Barshop B; Department of Pediatrics, University of California, San Diego, CA, USA., Grolik C; Department of Pediatric Neurology, Children's Hospital Cologne, Germany., Schlune A; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany., Angle B; Division of Birth Defects and Metabolism, Children's Memorial Hospital, Chicago, IL, USA., Araújo HC; Unit of Medical Sciences, University of Madeira, Funchal, Madeira, Portugal., Coskun T; Department of Pediatrics, Hacettepe University, Ankara, Turkey., Diogo L; Pediatric Hospital CHUC-EPE, Coimbra, Portugal., Geraghty M; Department of Pediatrics, CHEO, University of Ottawa, Ottawa, ON, Canada., Haliloglu G; Department of Pediatrics, Hacettepe University, Ankara, Turkey., Konstantopoulou V; Department of Pediatrics, Medical University Vienna, Vienna, Austria., Leuzzi V; Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza University of Rome, Rome, Italy., Levtova A; Department of Pediatrics, Sainte Justine University Hospital Centre, Montreal, QC, Canada., Mackenzie J; Department of Pediatrics, Queen's University, Kingston, ON, Canada., Maranda B; Division of Genetics, University of Sherbrooke, Sherbrooke, QC, Canada., Mhanni AA; Department of Pediatrics and Child Health, University of Mannitoba, Winnipeg, MB, Canada., Mitchell G; Department of Pediatrics, Sainte Justine University Hospital Centre, Montreal, QC, Canada; Sainte Justine University Research Center, Montreal, QC, Canada., Morris A; Department of Genetic Medicine, Manchester Academic Health Sciences Centre, Manchester, UK., Newlove T; Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada., Renaud D; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Valayannopoulos V; Reference Center for Inborn Errors of Metabolism, Hopital Necker Enfants Malades, Paris, France., van Spronsen FJ; Beatrix Children's Hospital, University Medical Center of Groningen, University of Groningen, The Netherlands., Verbruggen KT; Beatrix Children's Hospital, University Medical Center of Groningen, University of Groningen, The Netherlands., Yuskiv N; Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada., Nyhan W; Department of Pediatrics, University of California, San Diego, CA, USA., Schulze A; Department of Pediatrics, The Hospital for Sick Children, University of Toronto, ON, Canada; Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2014 Jan; Vol. 111 (1), pp. 16-25. Date of Electronic Publication: 2013 Nov 07.

Hemocytes ultrastructure of Aedes aegypti (Diptera: Culicidae).

Autor: Araújo HC; Departamento de Biologia Celular e Ultra-estrutura, Universidade Federal de Pernambuco, Brazil. helena@cpqam.fiocruz.br, Cavalcanti MG, Santos SS, Alves LC, Brayner FA

Publikováno v: Micron (Oxford, England : 1993) [Micron] 2008; Vol. 39 (2), pp. 184-9. Date of Electronic Publication: 2007 Jan 21.

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.

Autor: Mercimek-Mahmutoglu S; Division of Biochemical Diseases, British Columbia Children's Hospital, Vancouver, Canada., Stoeckler-Ipsiroglu S, Adami A, Appleton R, Araújo HC, Duran M, Ensenauer R, Fernandez-Alvarez E, Garcia P, Grolik C, Item CB, Leuzzi V, Marquardt I, Mühl A, Saelke-Kellermann RA, Salomons GS, Schulze A, Surtees R, van der Knaap MS, Vasconcelos R, Verhoeven NM, Vilarinho L, Wilichowski E, Jakobs C

Publikováno v: Neurology [Neurology] 2006 Aug 08; Vol. 67 (3), pp. 480-4. Date of Electronic Publication: 2006 Jul 19.