Browsing by Author UCL Inst Child Hlth

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Showing results 1 to 4 of 4
Issue DateTitleAuthor(s)
1-May-2012Expert recommendations for the laboratory diagnosis of MPS VIWood, T.; Bodamer, O. A.; Burin, M. G.; D'Almeida, V. [UNIFESP]; Fietz, M.; Giugliani, R.; Hawley, S. M.; Hendriksz, C. J.; Hwu, W. L.; Ketteridge, D.; Lukacs, Z.; Mendelsohn, N. J.; Miller, N.; Pasquali, M.; Schenone, A.; Schoonderwoerd, K.; Winchester, B.; Harmatz, P.; Greenwood Genet Ctr; Univ Miami; Hosp Clin Porto Alegre; Universidade Federal de São Paulo (UNIFESP); Women & Childrens Hosp; Univ Fed Rio Grande do Sul; BioMarin Pharmaceut Inc; Birmingham Childrens Hosp NHS Fdn Trust; Natl Taiwan Univ Hosp; Dept Pediat; Inst Clin Chem; Childrens Hosp & Clin Minnesota; Univ Utah; Fdn Estudio Enfermedades Neurometab FESEN; Erasmus MC; UCL Inst Child Hlth; Childrens Hosp Oakland
15-Jun-2014Inherited manganism: the cock-walk gait and typical neuroimaging featuresAvelino, Marcela Amaral [UNIFESP]; Fusao, Eduardo Ferracioli [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]; Arita, Juliana Harumi [UNIFESP]; Ribeiro, Reinaldo Teixeira [UNIFESP]; Pinho, Ricardo Silva [UNIFESP]; Tuschl, Karin; Barsottini, Orlando G. P. [UNIFESP]; Masruha, Marcelo Rodrigues [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); UCL Inst Child Hlth
19-Mar-2009Mutations in NR5A1 Associated with Ovarian InsufficiencyLourenco, Diana; Brauner, Raja; Lin, Lin; De Perdigo, Arantzazu; Weryha, Georges; Muresan, Mihaela; Boudjenah, Radia; Guerra-Junior, Gil; Maciel-Guerra, Andrea T.; Achermann, John C.; McElreavey, Ken; Bashamboo, Anu; Inst Pasteur; Univ Paris 05; AP HP; Hop Bicetre; UCL Inst Child Hlth; Lab Cytogenet; CHU Brabois; Hop Notre Dame de Bon Secours; Universidade Federal de São Paulo (UNIFESP); Universidade Estadual de Campinas (UNICAMP)
1-Apr-2015Undue regulatory control on phenobarbital-an important yet overlooked reason for the epilepsy treatment gapBhalla, Devender; Aziz, Hasan; Bergen, Donna; Birbeck, Gretchen L.; Carpio, Arturo; Cavalheiro, Esper [UNIFESP]; Chivorakoun, Phetvongsinh; Cross, J. Helen; Houinato, Dismand; Newton, Charles R.; Odermatt, Peter; Ravat, Sangeeta; Schmutzhard, Erich; Preux, Pierre-Marie; INSERM; Univ Limoges; Univ Hosp Ctr; Jinnah Postgrad Med Ctr; Rush Univ; Univ Rochester; Chikankata Hosp; Univ Cuenca; Universidade Federal de São Paulo (UNIFESP); Francophone Inst Trop Med; UCL Inst Child Hlth; Great Ormond St Hosp Children NHS Fdn Trust; Univ Abomey Calavi; Kenya Govt Med Res Ctr; Univ Oxford; Swiss Trop & Publ Hlth Inst; Univ Basel; Seth GS Med Coll & KEM Hosp; Med Univ Innsbruck