1
TITLE: Assessment of oxidation compounds in oaked Chardonnay wines: A GC-MS and H-1 NMR metabolomics approach  Full Text
AUTHORS: Joana Pinto; Ana Sofia Oliveira; Joana Azevedo ; Victor De Freitas ; Paulo Lopes; Isabel Roseira; Miguel Cabral; Paula Guedes de Pinho ;
PUBLISHED: 2018, SOURCE: FOOD CHEMISTRY, VOLUME: 257
INDEXED IN: Scopus WOS CrossRef: 27
2
TITLE: Accumulation of Ordered Ceramide-Cholesterol Domains in Farber Disease Fibroblasts
AUTHORS: Natalia Santos Ferreira; Michal Goldschmidt-Arzi; Helena Sabanay; Judith Storch; Thierry Levade; Maria Gil Ribeiro; Lia Addadi; Anthony H Futerman;
PUBLISHED: 2013, SOURCE: JIMD Reports - JIMD Reports - Volume 12
INDEXED IN: CrossRef: 14
IN MY: ORCID
3
TITLE: Two novel (1334delC and 1363G to A, G455R) mutations in Exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients  Full Text
AUTHORS: Ribeiro, MG; Pinto, RA; Suzuki, K; Miranda, MCS ;
PUBLISHED: 1997, SOURCE: HUMAN MUTATION, VOLUME: 10, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
4
TITLE: PRENATAL-DIAGNOSIS OF GM(2)-GANGLIOSIDOSIS B1 VARIANT
AUTHORS: LEMOS, M; PINTO, R; RIBEIRO, G; RIBEIRO, H; LOPES, L; MIRANDA, MCS ;
PUBLISHED: 1995, SOURCE: PRENATAL DIAGNOSIS, VOLUME: 15, ISSUE: 6
INDEXED IN: Scopus WOS
5
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
6
TITLE: GM2 gangliosidosis B1 variant: Possible portuguese origin of a causal mutation
AUTHORS: Maia, M; Alves, D; Santos, R; Ribeiro, G; Pinto, R; Guimarães, A; M.C SáMiranda;
PUBLISHED: 1992, SOURCE: Pediatric Neurology, VOLUME: 8, ISSUE: 5
INDEXED IN: CrossRef
IN MY: ORCID
7
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
8
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
INDEXED IN: Scopus
IN MY: ORCID
9
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
INDEXED IN: Scopus WOS