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Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.

Autor: Brusius-Facchin AC; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil., Schwartz IV; Post Graduation Program in Medical Sciences, UFRGS, Porto Alegre, RS, Brazil; Department of Genetics, UFRGS, Porto Alegre, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil., Zimmer C; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil., Ribeiro MG; Clinical Genetics Service, IPPMG, UFRJ, Rio de Janeiro, Brazil., Acosta AX; Department of Pediatrics, UFBA, Salvador, Brazil., Horovitz D; Instituto Fernandes Figueira, FIOCRUZ, Rio de Janeiro, Brazil., Monlleó IL; Department of Pediatrics, UNCISAL, Maceió, Brazil., Fontes MI; Department of Pediatrics, UNCISAL, Maceió, Brazil., Fett-Conte A; Department of Molecular Biology, FAMERP, São José do Rio Preto, Brazil., Sobrinho RP; Department of Medical Genetics, UNICAMP, Campinas, Brazil., Duarte AR; Medical Genetics Service, IMIP, Recife, Brazil., Boy R; Mother and Child Department, UERJ, Rio de Janeiro, Brazil., Mabe P; Genetics and Metabolic Diseases Unit, INTA, University of Chile, Chile., Ascurra M; Department of Genetics, ILCS-UNA, Asunción, Paraguay., de Michelena M; Universidad Peruana Cayetano Heredia, Lima, Peru., Tylee KL; Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, UK., Besley GT; Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, UK., Garreton MC; Unidad de Genética Clínica, Hospital Roberto del Río, Santiago, Chile., Giugliani R; Post Graduation Program in Medical Sciences, UFRGS, Porto Alegre, RS, Brazil; Department of Genetics, UFRGS, Porto Alegre, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil., Leistner-Segal S; Post Graduation Program in Medical Sciences, UFRGS, Porto Alegre, RS, Brazil; Department of Genetics, UFRGS, Porto Alegre, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil. Electronic address: ssegal@hcpa.ufrgs.br.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2014 Feb; Vol. 111 (2), pp. 133-8. Date of Electronic Publication: 2013 Sep 01.

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.

Autor: Shaikh MG; Department of Endocrinology, Royal Manchester Children's Hospital, Manchester, M27 4HA, UK., Boyes L, Kingston H, Collins R, Besley GT, Padmakumar B, Ismayl O, Hughes I, Hall CM, Hellerud C, Achermann JC, Clayton PE

Publikováno v: Journal of medical genetics [J Med Genet] 2008 Sep; Vol. 45 (9), pp. e1.

Methylmalonic aciduria: follow-up and enzymology on the original case after 36 years.

Autor: Bain MD; Paediatric Metabolism Unit, Division of Child Health, Department of Clinical Developmental Sciences, St George's Hospital Medical School, London, UK. mbain@sgul.ac.uk, Till J, Jones MG, Besley GT, Lee P, Oliveira D, Chalmers RA

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2005; Vol. 28 (6), pp. 1179-80.

Juvenile Sandhoff disease--nine new cases and a review of the literature.

Autor: Hendriksz CJ; Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, Manchester, UK. chris.hendriksz@cmmc.nhs.uk, Corry PC, Wraith JE, Besley GT, Cooper A, Ferrie CD

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2004; Vol. 27 (2), pp. 241-9.