71
TITLE: Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T  Full Text
AUTHORS: Marcao, A; Azevedo, JE ; Gieselmann, V; Miranda, MCS ;
PUBLISHED: 2003, SOURCE: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, VOLUME: 306, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 7
72
TITLE: Phenotypic evolution in adrenoleukodystrophy [Evolução fenotípica na adrenoleucodistrofia]
AUTHORS: Mendes, P; Meneses, I; Monteiro, L; Coelho, T; Vasconcelos, C; Lemos, M; Ferreira, R; Sa Miranda, MC ;
PUBLISHED: 2003, SOURCE: Acta Medica Portuguesa, VOLUME: 16, ISSUE: 4
INDEXED IN: Scopus
IN MY: ORCID
73
TITLE: The energetics of Pex5p-mediated peroxisomal protein import
AUTHORS: Oliveira, ME; Gouveia, AM ; Pinto, RA; Sa Miranda, C ; Azevedo, JE ;
PUBLISHED: 2003, SOURCE: JOURNAL OF BIOLOGICAL CHEMISTRY, VOLUME: 278, ISSUE: 41
INDEXED IN: Scopus WOS CrossRef: 77
74
TITLE: The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement  Full Text
AUTHORS: Cox, TM; Aerts, JMFG; Andria, G; Beck, M; Belmatoug, N; Bembi, B; Chertkoff, R; Vom Dahl, S; Elstein, D; Erikson, A; Giralt, M; Heitner, R; Hollak, C; Hrebicek, M; Lewis, S; Mehta, A; Pastores, GM; Rolfs, A; Miranda, MCS ; Zimran, A;
PUBLISHED: 2003, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 26, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 167
IN MY: ORCID
75
TITLE: Mammalian Pex14p: membrane topology and characterisation of the Pex14p-Pex14p interaction  Full Text
AUTHORS: Oliveira, MEM; Reguenga, C ; Gouveia, AMM ; Guimaraes, CP; Schliebs, W; Kunau, WH; Silva, MT; Sa Miranda, C ; Azevedo, JE ;
PUBLISHED: 2002, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES, VOLUME: 1567, ISSUE: 1-2
INDEXED IN: Scopus WOS CrossRef: 39
76
TITLE: Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene  Full Text
AUTHORS: Guimaraes, CP; Lemos, M; Sa Miranda, C ; Azevedo, JE ;
PUBLISHED: 2002, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 76, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 11
77
TITLE: Relationships between serum markers of monocyte/macrophage activation in type 1 Gaucher's disease
AUTHORS: Casal, JA; Lacerda, C; Perez, LF; Pinto, RA; Miranda, MCS ; Tutor, JC;
PUBLISHED: 2002, SOURCE: CLINICAL CHEMISTRY AND LABORATORY MEDICINE, VOLUME: 40, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
78
TITLE: Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP  Full Text
AUTHORS: Guimaraes, CP; Lemos, M; Menezes, I; Coelho, T; Sa Miranda, C ; Azevedo, JE ;
PUBLISHED: 2001, SOURCE: HUMAN GENETICS, VOLUME: 109, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 11
79
TITLE: Characterization of the mammalian peroxisomal import machinery
AUTHORS: Reguenga, C ; Oliveira, MEM; Gouveia, AMM ; Sa Miranda, C ; Azevedo, JE ;
PUBLISHED: 2001, SOURCE: JOURNAL OF BIOLOGICAL CHEMISTRY, VOLUME: 276, ISSUE: 32
INDEXED IN: Scopus WOS CrossRef: 77
80
TITLE: Hfe mutations in the normal portuguese population: Regional differences for the frequency of C282Y mutation
AUTHORS: Cardoso, C; Oliveira, P ; Oberkanins, C; Mascarenhas, M; Rodrigues, P ; Sa Miranda, C ; Kury, F; De Sousa, M ; Porto, G ;
PUBLISHED: 2001, SOURCE: European Journal of Immunogenetics, VOLUME: 28, ISSUE: 2
INDEXED IN: Scopus
IN MY: ORCID
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