111
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
112
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; Miranda, MCS; de Lacerda, LW; van Weely, S; Donker Koopman, W; Brouwer Kelder, B; Jansen, DC; van Leeuwen, M; Schram, AW; Tsiapara, A; Tager, JM;
PUBLISHED: 1991, SOURCE: Clinica Chimica Acta, VOLUME: 203, ISSUE: 2-3
INDEXED IN: Scopus
IN MY: ORCID
113
TITLE: GM2-GANGLIOSIDOSIS-B1 VARIANT - ANALYSIS OF BETA-HEXOSAMINIDASE ALPHA-GENE MUTATIONS IN 11 PATIENTS FROM A DEFINED REGION IN PORTUGAL
AUTHORS: DOSSANTOS, MR; TANAKA, A; MIRANDA, MCS; RIBEIRO, MG; MAIA, M; SUZUKI, K;
PUBLISHED: 1991, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 49, ISSUE: 4
INDEXED IN: WOS
114
TITLE: Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts  Full Text
AUTHORS: Sonja Van Weely; Marinella B Van Leeuwen; Ineke D.C Jansen; Marianne A.C De Bruijn; Elisabeth M Brouwer-Kelder; AndréW Schram; M.Clara Sa Miranda; John A Barranger; Evelyn M Petersen; Jack Goldblatt; Harald Stotz; Günther Schwarzmann; Konrad Sandhoff; Lars Svennerholm; Anders Erikson; Joseph M Tager; Johannes M.F.G Aerts;
PUBLISHED: 1991, SOURCE: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, VOLUME: 1096, ISSUE: 4
INDEXED IN: CrossRef
IN MY: ORCID
115
TITLE: Conditions affecting the activity of glucocerebrosidase purified fom spleens of control subjects and patients with type 1 Gaucher disease  Full Text
AUTHORS: Johannes M.F.G Aerts; M.Clara Sa Miranda; Elidabeth M Brouwer-Kelder; Sonja Van Weely; John A Barranger; Joseph M Tager;
PUBLISHED: 1990, SOURCE: Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology, VOLUME: 1041, ISSUE: 1
INDEXED IN: CrossRef
IN MY: ORCID
116
TITLE: SODIUM TAUROCHOLATE EFFECT ON BETA-GLUCOSIDASE ACTIVITY - A NEW APPROACH FOR IDENTIFICATION OF GAUCHER DISEASE USING THE SYNTHETIC SUBSTRATE AND LEUKOCYTES  Full Text
AUTHORS: MAGALHAES, J; MIRANDA, MCS; PINTO, R; LEMOS, M; POENARU, L;
PUBLISHED: 1984, SOURCE: CLINICA CHIMICA ACTA, VOLUME: 141, ISSUE: 2-3
INDEXED IN: Scopus WOS
117
TITLE: AGE DEPENDENCY OF SERUM ACID-PHOSPHATASE IN CONTROLS AND GAUCHER PATIENTS
AUTHORS: MAGALHAES, J; PINTO, R; LEMOS, M; MIRANDA, MCS; POENARU, L;
PUBLISHED: 1984, SOURCE: ENZYME, VOLUME: 32, ISSUE: 2
INDEXED IN: WOS
Page 12 of 12. Total results: 117.