Maria Clara Pereira de Sá Miranda


AuthID: R-000-ARA

Confirmed Publications: 116



91
TITLE: Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online.  Full Text
AUTHORS: Marcao, A; Amaral, O; Pinto, E; Pinto, R; Sa Miranda, MC ;
PUBLISHED: 1999, SOURCE: Human mutation, VOLUME: 13, ISSUE: 4
INDEXED IN: Scopus
IN MY: ORCID
92
TITLE: Sialuria in a Portuguese girl: Clinical, biochemical, and molecular characteristics  Full Text
AUTHORS: Ferreira, H; Seppala, R; Pinto, R; Huizing, M; Martins, E ; Braga, AC; Gomes, L; Krasnewich, DM; Miranda, MCS ; Gahl, WA;
PUBLISHED: 1999, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 67, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID
93
TITLE: Thermodynamic characterisation of the mutated isoenzyme A of beta-N-acetylhexosaminidase in GM2-gangliosidosis B1 variant  Full Text
AUTHORS: Perez, LF; Ribeiro, HM; Casal, JA; Pinto, RA; Miranda, MCS ; Tutor, JC;
PUBLISHED: 1999, SOURCE: CLINICA CHIMICA ACTA, VOLUME: 285, ISSUE: 1-2
INDEXED IN: Scopus WOS
IN MY: ORCID | ResearcherID
94
TITLE: Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation  Full Text
AUTHORS: Amaral, O; Marcao, A; Pinto, E; Zimran, A; Miranda, MCS ;
PUBLISHED: 1997, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 23, ISSUE: 22
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
95
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
IN MY: ORCID
96
TITLE: Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of G(M2)-gangliosidosis B1 variant
AUTHORS: Ribeiro, MG; Sonin, T; Pinto, RA; Fontes, A; Ribeiro, H; Pinto, E; Palmeira, MM; SaMiranda, MC ;
PUBLISHED: 1996, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 33, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 14
IN MY: ORCID | ResearcherID
97
TITLE: Type 1 Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese
AUTHORS: Amaral, O; Pinto, E; Fortuna, M; Lacerda, L; Miranda, MCS ;
PUBLISHED: 1996, SOURCE: HUMAN MUTATION, VOLUME: 8, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID
98
TITLE: Correspondence
AUTHORS: Langenbeck, U; Sa Miranda, MC ;
PUBLISHED: 1995, SOURCE: Journal of Inherited Metabolic Disease, VOLUME: 18, ISSUE: 1
INDEXED IN: Scopus
IN MY: ORCID
99
TITLE: Morphological and biochemical assessment of the cornea in a Gaucher disease carrier with keratoconus
AUTHORS: Salgado Borges, J; Silva Araujo, A; Lemos, MM; Sa Miranda, MC ; Abreu Dias, P; Tavares, MA ;
PUBLISHED: 1995, SOURCE: European Journal of Ophthalmology, VOLUME: 5, ISSUE: 2
INDEXED IN: Scopus
IN MY: ORCID
100
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
IN MY: ORCID | ResearcherID
Página 10 de 12. Total de resultados: 116.

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