21
TITLE: Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene  Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Prata, MJ ; Ribeiro, H; Lopes, L; Ferreira, C; Alves, S;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 74, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 13
22
TITLE: Blue rubber bleb Nevus syndrome: Manifestations at computed tomography  Full Text
AUTHORS: Certo, M; Lopes, L; Ramada, J;
PUBLISHED: 2007, SOURCE: ACTA RADIOLOGICA, VOLUME: 48, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef
23
TITLE: A case-control study on risk factors for early-onset respiratory tract infection in patients admitted in ICU  Full Text
AUTHORS: Cardoso, TC; Lopes, LM; Carneiro, AH;
PUBLISHED: 2007, SOURCE: BMC Pulmonary Medicine, VOLUME: 7, ISSUE: 1
INDEXED IN: Scopus CrossRef: 9
24
TITLE: Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations  Full Text
AUTHORS: Alves, S; Mangas, M; Prata, MJ ; Ribeiro, G; Lopes, L; Ribeiro, H; Pinto Basto, J; Reis R Lima; Lacerda, L;
PUBLISHED: 2006, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 29, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 31
25
TITLE: Giant solitary fibrous tumour of the meninges: MR-pathological correlation
AUTHORS: Sa, G; Bonneville, F; Poirier, J; Lopes, M; Dormont, D; Chiras, J;
PUBLISHED: 2006, SOURCE: JOURNAL OF NEURORADIOLOGY, VOLUME: 33, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
26
TITLE: Fibrinogen A alpha-chain amyloidosis (AFib): homozygosity for the Glu526Val mutation  Full Text
AUTHORS: Lobato, L; Matos, C; Tavares, I; Moreira, P; Carvalho, E; Saraiva, MJ ;
PUBLISHED: 2006, SOURCE: 11th International Symposium on Amyloidosis in AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 13
INDEXED IN: WOS
27
TITLE: Massive lower gastrointestinal bleeding from idiopathic ileocolonic varix: Report of a case
AUTHORS: Lopes, LM; Ramada, JM; Certo, MG; Pereira, PR; Soares, JM; Ribeiro, M; Areias, J; Pinho, C;
PUBLISHED: 2006, SOURCE: DISEASES OF THE COLON & RECTUM, VOLUME: 49, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 12
29
TITLE: Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population  Full Text
AUTHORS: Teixeira, C; Guimaraes, A; Bessa, C; Ferreira, MJ; Lopes, L; Pinto, E; Pinto, R; Boustany, RM; Sa Miranda, MC ; Ribeiro, MG;
PUBLISHED: 2003, SOURCE: JOURNAL OF NEUROLOGY, VOLUME: 250, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
30
TITLE: How counseling carriers of transthyretin Val30Met mutation and end-stage renal disease in the family?
AUTHORS: Lobato, L; Beirao, I ; Silva, M; Sequeiros, J ; Sousa, A;
PUBLISHED: 2001, SOURCE: AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 8
INDEXED IN: WOS
Page 3 of 4. Total results: 36.