Maria Gil Roseira Ribeiro
AuthID: R-002-1GS
11
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
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
Scopus WOS IN MY: 
ORCID
ORCID12
TITLE: Prenatal diagnosis of GM2-gangliosidosis B1 variant
AUTHORS: Lemos, M; Pinto, R; Ribeiro, G; Ribeiro, H; Lopes, L; Sá C S Miranda;
PUBLISHED: 1995, SOURCE: Prenatal Diagnosis - Prenat. Diagn., VOLUME: 15, ISSUE: 6
AUTHORS: Lemos, M; Pinto, R; Ribeiro, G; Ribeiro, H; Lopes, L; Sá C S Miranda;
PUBLISHED: 1995, SOURCE: Prenatal Diagnosis - Prenat. Diagn., VOLUME: 15, ISSUE: 6
13
TITLE: Tay-Sachs disease: Intron 7 splice junction mutation in two Portuguese patients Full Text
AUTHORS: Maria G Ribeiro; Rui Pinto; Maria C Sa Miranda; Kunihiko Suzuki;
PUBLISHED: 1995, SOURCE: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, VOLUME: 1270, ISSUE: 1
AUTHORS: Maria G Ribeiro; Rui Pinto; Maria C Sa Miranda; Kunihiko Suzuki;
PUBLISHED: 1995, SOURCE: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, VOLUME: 1270, ISSUE: 1
14
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
AUTHORS: RIBEIRO, MG; PINTO, R; OLIVEIRA, P ; MIRANDA, MCS ;
PUBLISHED: 1993, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 16, ISSUE: 6
15
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
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
Scopus WOS IN MY: ORCID
ORCID16
TITLE: GM2-gangliosidosis B1 variant: Analysis of β-hexosaminidase α gene mutations in 11 patients from a defined region in Portugal
AUTHORS: Dos Santos, MR; Tanaka, A; Sa Miranda, MC; Ribeiro, MG; Maia, M; Suzuki, K;
PUBLISHED: 1991, SOURCE: American Journal of Human Genetics, VOLUME: 49, ISSUE: 4
AUTHORS: Dos Santos, MR; Tanaka, A; Sa Miranda, MC; Ribeiro, MG; Maia, M; Suzuki, K;
PUBLISHED: 1991, SOURCE: American Journal of Human Genetics, VOLUME: 49, ISSUE: 4
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID17
TITLE: Biochemical characterization of β-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant
AUTHORS: Ribeiro, MG; Pinto, RA; Dos Santos, MR; Maia, M; Sá Miranda, MC;
PUBLISHED: 1991, SOURCE: Journal of Inherited Metabolic Disease - J Inherit Metab Dis, VOLUME: 14, ISSUE: 5
AUTHORS: Ribeiro, MG; Pinto, RA; Dos Santos, MR; Maia, M; Sá Miranda, MC;
PUBLISHED: 1991, SOURCE: Journal of Inherited Metabolic Disease - J Inherit Metab Dis, VOLUME: 14, ISSUE: 5
18
TITLE: JUVENILE GM2 GANGLIOSIDOSIS VARIANT-B1 - CLINICAL AND BIOCHEMICAL-STUDY IN 7 PATIENTS
AUTHORS: MAIA, M; ALVES, D; RIBEIRO, G; PINTO, R; MIRANDA, MCS ;
PUBLISHED: 1990, SOURCE: NEUROPEDIATRICS, VOLUME: 21, ISSUE: 1
AUTHORS: MAIA, M; ALVES, D; RIBEIRO, G; PINTO, R; MIRANDA, MCS ;
PUBLISHED: 1990, SOURCE: NEUROPEDIATRICS, VOLUME: 21, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS IN MY: ORCID | ResearcherID
ORCID | ResearcherID