ProfileOfResearchers

TITLE: Clinical presentation and outcome in a series of 88 patients with the cblC defect Full Text
AUTHORS: Sabine Fischer; Martina Huemer; Matthias Baumgartner; Federica Deodato; Diana Ballhausen; Avihu Boneh; Alberto B Burlina; Roberto Cerone; Paula Garcia; Guelden Goekcay; Stephanie Gruenewald; Johannes Haeberle; Jaak Jaeken; David Ketteridge; Martin Lindner; Hanna Mandel; Diego Martinelli; Esmeralda G Martins ; Karl O Schwab; Sarah C Gruenert; Bernd C Schwahn; Laszlo Sztriha; Maren Tomaske; Friedrich Trefz; Laura Vilarinho; David S Rosenblatt; Brian Fowler; Carlo Dionisi Vici; ...More
PUBLISHED: 2014, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 37, ISSUE: 5

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TITLE: Living with inborn errors of cholesterol biosynthesis: lessons from adult patients. Living with inborn errors of cholesterol biosynthesis Full Text
AUTHORS: Cardoso, ML; Barbosa, M; Serra, D; Martins, E ; Fortuna, A; Reis Lima, M; Bandeira, A; Balreira, A; Marques, F ;
PUBLISHED: 2014, SOURCE: CLINICAL GENETICS, VOLUME: 85, ISSUE: 2

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TITLE: Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal. Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency Full Text
AUTHORS: Ventura, FV; Leandro, P; Luz, A; Rivera, IA; Silva, MFB; Ramos, R; Rocha, H; Lopes, A; Fonseca, H; Gaspar, A; Diogo, L; Martins, E ; Leao Teles, E; Vilarinho, L; de Almeida, IT;
PUBLISHED: 2014, SOURCE: CLINICAL GENETICS, VOLUME: 85, ISSUE: 6

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TITLE: Development of a mnemonic screening tool for identifying subjects with Hunter syndrome Full Text
AUTHORS: Gabriel M Cohn; Gabriel M on behalf of the Hunter Outcome Survey Investigators; Isabelle Morin; David A H Whiteman; Esmeralda Gomes Martins ;
PUBLISHED: 2013, SOURCE: European Journal of Pediatrics, VOLUME: 172, ISSUE: 7

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TITLE: Dietary practices in pyridoxine non-responsive homocystinuria: A European survey Full Text
AUTHORS: Adam, S; Almeida, MF; Carbasius C Weber; Champion, H; Chan, H; Daly, A; Dixon, M; Dokoupil, K; Egli, D; Evans, S; Eyskens, F; Faria, A; Ferguson, C; Hallam, P; Heddrich Ellerbrok, M; Jacobs, J; Jankowski, C; Lachmann, R; Lilje, R; Link, R; Lowry, S; Luyten, K; MacDonald, A; Maritz, C; Martins, E ; Meyer, U; Mueller, E; Murphy, E; Robertson, LV; Rocha, JC ; Saruggia, I; Schick, P; Stafford, J; Stoelen, L; Terry, A; Thom, R; van den Hurk, T; van Rijn, M; van Teefelen Heithoff, A; Webster, D; White, FJ; Wildgoose, J; Zweers, H; ...More
PUBLISHED: 2013, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 110, ISSUE: 4

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TITLE: Liver transplantation prevents progressive neurological impairment in argininemia
AUTHORS: Silva, ES; Cardoso, ML; Vilarinho, L; Medina, M; Barbot, C; Martins, E ;
PUBLISHED: 2013, SOURCE: JIMD Reports, VOLUME: 11

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TITLE: MAN1B1 Deficiency: An Unexpected CDG-II Full Text
AUTHORS: Daisy Rymen; Romain Peanne; Maria B Millon; Valerie Race; Luisa Sturiale; Domenico Garozzo; Philippa Mills; Peter Clayton; Carla G Asteggiano; Dulce Quelhas; Ali Cansu; Esmeralda Martins ; Marie Cecile Nassogne; Miguel Goncalves Rocha; Haluk Topaloglu; Jaak Jaeken; Francois Foulquier; Gert Matthijs;
PUBLISHED: 2013, SOURCE: PLOS GENETICS, VOLUME: 9, ISSUE: 12

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TITLE: Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency Full Text
AUTHORS: Maria L Luz Couce; Paula Sanchez Pintos; Luisa Diogo; Elisa Leao Teles; Esmeralda Martins ; Helena Santos; Maria A Amor Bueno; Carmen Delgado Pecellin; Daisy E Castineiras; Jose A Cocho; Judit Garcia Villoria; Antonia Ribes; Jose M Fraga; Hugo Rocha;
PUBLISHED: 2013, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, ISSUE: 1

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TITLE: Trimethylaminuria (fish odor syndrome): Genotype characterization among Portuguese patients Full Text
AUTHORS: Filipa Ferreira; Sofia Esteves; Ligia S Almeida; Ana Gaspar; Claudia Dias da Costa; Patricia Janeiro; Anabela Bandeira; Esmeralda Martins ; Elisa Leao Teles; Paula Garcia; Luisa Azevedo ; Laura Vilarinho;
PUBLISHED: 2013, SOURCE: GENE, VOLUME: 527, ISSUE: 1

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