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41.
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Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. [electronic resource] by
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- Martins, E
- Braga, A C
- Gomes, L
- Krasnewich, D M
- Sa Miranda, M C
- Gahl, W A
Producer: 19990712
In:
Molecular genetics and metabolism vol. 67
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42.
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43.
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44.
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Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. [electronic resource] by
- Bessa, C
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- Mangas, M
- Dias, A
- Sá Miranda, M C
- Guimarães, A
- Ferreira, J C
- Canas, N
- Cabral, P
- Ribeiro, M G
Producer: 20061213
In:
Molecular genetics and metabolism vol. 89
Availability: No items available.
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45.
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46.
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[Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous]. [electronic resource] by
- Cherif, W
- Ben Turkia, H
- Tebib, N
- Amaral, O
- Ben Rhouma, F
- Abdelmoula, M S
- Azzouz, H
- Caillaud, C
- Sà Miranda, M-C
- Abdelhak, S
- Ben Dridi, M-F
Producer: 20090515
In:
Archives de l'Institut Pasteur de Tunis vol. 84
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47.
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[Molecular diagnosis of Gaucher disease in Tunisia]. [electronic resource] by
- Cherif, W
- Ben Turkia, H
- Ben Rhouma, F
- Riahi, I
- Chemli, J
- Amaral, O
- Sá Miranda, M C
- Caillaud, C
- Kaabachi, N
- Tebib, N
- Abdelhak, S
- Ben Dridi, M F
Producer: 20131211
In:
Pathologie-biologie vol. 61
Availability: No items available.
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48.
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The identification of type 1 Gaucher disease patients, asymptomatic cases and carriers in The Netherlands using urine samples: an evaluation. [electronic resource] by
- Aerts, J M
- Sa Miranda, M C
- Wanzeller de Lacerda, L
- van Weely, S
- Donker-Koopman, W
- Brouwer-Kelder, B
- Jansen, D C
- van Leeuwen, M
- Schram, A W
- Tsiapara, A
Producer: 19920312
In:
Clinica chimica acta; international journal of clinical chemistry vol. 203
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49.
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Prevalence of lysosomal storage diseases in Portugal. [electronic resource] by
- Pinto, Rui
- Caseiro, Carla
- Lemos, Manuela
- Lopes, Lurdes
- Fontes, Augusta
- Ribeiro, Helena
- Pinto, Eugénia
- Silva, Elisabete
- Rocha, Sónia
- Marcão, Ana
- Ribeiro, Isaura
- Lacerda, Lúcia
- Ribeiro, Gil
- Amaral, Olga
- Sá Miranda, M C
Producer: 20040909
In:
European journal of human genetics : EJHG vol. 12
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50.
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Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts. [electronic resource] by
- Van Weely, S
- Van Leeuwen, M B
- Jansen, I D
- De Bruijn, M A
- Brouwer-Kelder, E M
- Schram, A W
- Sa Miranda, M C
- Barranger, J A
- Petersen, E M
- Goldblatt, J
Producer: 19910815
In:
Biochimica et biophysica acta vol. 1096
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51.
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Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). [electronic resource] by
- Swiedler, Stuart J
- Beck, Michael
- Bajbouj, Manal
- Giugliani, Roberto
- Schwartz, Ida
- Harmatz, Paul
- Wraith, James E
- Roberts, Jane
- Ketteridge, David
- Hopwood, John J
- Guffon, Nathalie
- Sá Miranda, M Clara
- Teles, Elisa Leão
- Berger, Kenneth I
- Piscia-Nichols, Cheri
Producer: 20050627
In:
American journal of medical genetics. Part A vol. 134A
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52.
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Mutational analysis of 105 mucopolysaccharidosis type VI patients. [electronic resource] by
- Karageorgos, Litsa
- Brooks, Doug A
- Pollard, Anthony
- Melville, Elizabeth L
- Hein, Leanne K
- Clements, Peter R
- Ketteridge, David
- Swiedler, Stuart J
- Beck, Michael
- Giugliani, Roberto
- Harmatz, Paul
- Wraith, James E
- Guffon, Nathalie
- Leão Teles, Elisa
- Sá Miranda, M Clara
- Hopwood, John J
Producer: 20071002
In:
Human mutation vol. 28
Availability: No items available.
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