Maria Clara Pereira de Sá Miranda


AuthID: R-000-ARA

Confirmed Publications: 116



81
TITLE: Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations  Full Text
AUTHORS: Ribeiro, I; Marcao, A; Amaral, O; Miranda, MCS ; Vanier, MT; Millat, G;
PUBLISHED: 2001, SOURCE: HUMAN GENETICS, VOLUME: 109, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID
82
TITLE: Retrovirus-mediated transfer and expression of beta-hexosaminidase alpha-chain cDNA in human fibroblasts from G(M2)-gangliosidosis B1 variant
AUTHORS: Teixeira, CA; Sena Esteves, M; Lopes, L; Miranda, MCS ; Ribeiro, MG;
PUBLISHED: 2001, SOURCE: HUMAN GENE THERAPY, VOLUME: 12, ISSUE: 14
INDEXED IN: Scopus WOS CrossRef
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83
84
TITLE: Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients  Full Text
AUTHORS: Amaral, O; Marcao, A; Miranda, MCS ; Desnick, RJ; Grace, ME;
PUBLISHED: 2000, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 8, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
85
TITLE: Gaucher disease: The origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations
AUTHORS: Diaz, GA; Gelb, BD; Risch, N; Nygaard, TG; Frisch, A; Cohen, IJ; Miranda, CS ; Amaral, O; Maire, I; Poenaru, L; Caillaud, C; Weizberg, M; Mistry, P; Desnick, RJ;
PUBLISHED: 2000, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 66, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
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86
87
TITLE: Characterization of the isoenzyme profile of beta-N-acetylhexosaminidase in the urine of newborns
AUTHORS: Perez, LF; Martinez, MI; Ribeiro, HM; Pinto, RA; Miranda, MCS ; Tutor, JC;
PUBLISHED: 1999, SOURCE: CLINICAL CHEMISTRY AND LABORATORY MEDICINE, VOLUME: 37, ISSUE: 7
INDEXED IN: Scopus WOS
IN MY: ORCID
88
TITLE: Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin  Full Text
AUTHORS: Amaral, O; Lacerda, L; Marcao, A; Pinto, E; Tamagnini, G; Miranda, MCS ;
PUBLISHED: 1999, SOURCE: CLINICAL GENETICS, VOLUME: 56, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID
89
TITLE: Identification of a 24 kDa intrinsic membrane protein from mammalian peroxisomes  Full Text
AUTHORS: Reguenga, C ; Oliveira, MEM; Gouveia, AMM ; Eckerskorn, C; Sa Miranda, C ; Azevedo, JE ;
PUBLISHED: 1999, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION, VOLUME: 1445, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 23
IN MY: ORCID | ResearcherID
90
TITLE: Linkage disequilibrium analysis of the Gaucher disease N370S mutation.
AUTHORS: Diaz, GA; Gelb, BD; Risch, N; Nygaard, T; Maire, I; Poenaru, L; Caillaud, C; Miranda, CS ; Amaral, O; Mistry, PK; Desnick, RJ;
PUBLISHED: 1999, SOURCE: JOURNAL OF INVESTIGATIVE MEDICINE, VOLUME: 47, ISSUE: 2
INDEXED IN: Scopus WOS
IN MY: ORCID | ResearcherID
Page 9 of 12. Total results: 116.

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