Maria Clara Pereira de Sá Miranda


AuthID: R-000-ARA

Confirmed Publications: 116



101
TITLE: TAY-SACHS-DISEASE - INTRON-7 SPLICE JUNCTION MUTATION IN 2 PORTUGUESE PATIENTS  Full Text
AUTHORS: RIBEIRO, MG; PINTO, R; MIRANDA, MCS ; SUZUKI, K;
PUBLISHED: 1995, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, VOLUME: 1270, ISSUE: 1
INDEXED IN: Scopus WOS
IN MY: ORCID
102
TITLE: GAUCHER DISEASE - N370S GLUCOCEREBROSIDASE GENE-FREQUENCY IN THE PORTUGUESE POPULATION
AUTHORS: LACERDA, L; AMARAL, O; PINTO, R; OLIVEIRA, P ; AERTS, J; MIRANDA, MCS ;
PUBLISHED: 1994, SOURCE: CLINICAL GENETICS, VOLUME: 45, ISSUE: 6
INDEXED IN: Scopus WOS
IN MY: ORCID
103
TITLE: MOLECULAR CHARACTERIZATION OF TYPE-1 GAUCHER DISEASE FAMILIES AND PATIENTS - INTRAFAMILIAL HETEROGENEITY AT THE CLINICAL-LEVEL
AUTHORS: AMARAL, O; FORTUNA, AM; LACERDA, L; PINTO, R; MIRANDA, MCS ;
PUBLISHED: 1994, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 31, ISSUE: 5
INDEXED IN: Scopus WOS
IN MY: ORCID | ResearcherID
104
TITLE: THE N370S MUTATION IN THE GLUCOCEREBROSIDASE GENE OF PORTUGUESE TYPE-1 GAUCHER PATIENTS - LINKAGE TO THE PVUII POLYMORPHISM
AUTHORS: LACERDA, L; AMARAL, O; PINTO, R; AERTS, J; MIRANDA, MCS ;
PUBLISHED: 1994, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 17, ISSUE: 1
INDEXED IN: Scopus WOS
IN MY: ORCID | ResearcherID
105
TITLE: IDENTIFICATION OF GAUCHER DISEASE CARRIERS - GLUCOCEREBROSIDASE ANTIGEN AND DNA ANALYSIS
AUTHORS: LACERDA, L; AMARAL, O; PINTO, R; AERTS, J; MIRANDA, MCS ;
PUBLISHED: 1993, SOURCE: BIOCHEMICAL MEDICINE AND METABOLIC BIOLOGY, VOLUME: 50, ISSUE: 2
INDEXED IN: Scopus WOS
IN MY: ORCID | ResearcherID
106
TITLE: IDENTIFICATION OF GM2-GANGLIOSIDOSIS B1 VARIANT CARRIERS
AUTHORS: RIBEIRO, MG; PINTO, R; OLIVEIRA, P ; MIRANDA, MCS ;
PUBLISHED: 1993, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 16, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID
107
TITLE: ROLE OF PH IN DETERMINING THE CELL-TYPE SPECIFIC RESIDUAL ACTIVITY OF GLUCOCEREBROSIDASE IN TYPE-1 GAUCHER DISEASE
AUTHORS: VANWEELY, S; VANDENBERG, M; BARRANGER, JA; MIRANDA, MCS ; TAGER, JM; AERTS, JMFG;
PUBLISHED: 1993, SOURCE: JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 91, ISSUE: 3
INDEXED IN: Scopus WOS
IN MY: ORCID | ResearcherID
108
TITLE: TYPE-1 GAUCHER DISEASE - MOLECULAR, BIOCHEMICAL, AND CLINICAL CHARACTERIZATION OF PATIENTS FROM NORTHERN PORTUGAL
AUTHORS: AMARAL, O; LACERDA, L; SANTOS, R; PINTO, RA; AERTS, H; MIRANDA, MCS ;
PUBLISHED: 1993, SOURCE: BIOCHEMICAL MEDICINE AND METABOLIC BIOLOGY, VOLUME: 49, ISSUE: 1
INDEXED IN: Scopus WOS
IN MY: ORCID | ResearcherID
109
TITLE: BIOCHEMICAL-CHARACTERIZATION OF BETA-HEXOSAMINIDASE IN DIFFERENT BIOLOGICAL SPECIMENS FROM 11 PATIENTS WITH GM2-GANGLIOSIDOSIS-B1 VARIANT
AUTHORS: RIBEIRO, MG; PINTO, RA; DOSSANTOS, MR; MAIA, M; MIRANDA, MCS ;
PUBLISHED: 1991, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 14, ISSUE: 5
INDEXED IN: Scopus WOS
IN MY: ORCID | ResearcherID
110
TITLE: THE IDENTIFICATION OF TYPE-1 GAUCHER DISEASE PATIENTS, ASYMPTOMATIC CASES AND CARRIERS IN THE NETHERLANDS USING URINE SAMPLES - AN EVALUATION  Full Text
AUTHORS: AERTS, JMFG; SAMIRANDA, MC ; DELACERDA, LW; VANWEELY, S; DONKERKOOPMAN, W; BROUWERKELDER, B; JANSEN, DC; VANLEEUWEN, M; SCHRAM, AW; TSIAPARA, A; TAGER, JM;
PUBLISHED: 1991, SOURCE: CLINICA CHIMICA ACTA, VOLUME: 203, ISSUE: 2-3
INDEXED IN: WOS
IN MY: ResearcherID
Página 11 de 12. Total de resultados: 116.

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