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Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC). [electronic resource] by
- Azevedo, L
- Soares, P A
- Quental, R
- Vilarinho, L
- Teles, E L
- Martins, E
- Diogo, L
- Garcia, P
- Cenni, B
- Wermuth, B
- Amorim, A
Producer: 20061211
In:
Annals of human genetics vol. 70
Availability: No items available.
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14.
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The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). [electronic resource] by
- Harmatz, P
- Hendriksz, C J
- Lampe, C
- McGill, J J
- Parini, R
- Leão-Teles, E
- Valayannopoulos, V
- Cole, T J
- Matousek, R
- Graham, S
- Guffon, N
- Quartel, A
Producer: 20180518
In:
Molecular genetics and metabolism vol. 122
Availability: No items available.
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15.
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Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. [electronic resource] by
- Van Maldergem, L
- Yuksel-Apak, M
- Kayserili, H
- Seemanova, E
- Giurgea, S
- Basel-Vanagaite, L
- Leao-Teles, E
- Vigneron, J
- Foulon, M
- Greally, M
- Jaeken, J
- Mundlos, S
- Dobyns, W B
Producer: 20090108
In:
Neurology vol. 71
Availability: No items available.
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16.
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Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis. [electronic resource] by
- Butler, Michael
- Quelhas, D
- Critchley, Alison J
- Carchon, Hubert
- Hebestreit, Holger F
- Hibbert, Richard G
- Vilarinho, Laura
- Teles, E
- Matthijs, Gert
- Schollen, Els
- Argibay, Pablo
- Harvey, David J
- Dwek, Raymond A
- Jaeken, Jaak
- Rudd, Pauline M
Producer: 20040514
In:
Glycobiology vol. 13
Availability: No items available.
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17.
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Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal. [electronic resource] by
- Ventura, F V
- Leandro, P
- Luz, A
- Rivera, I A
- Silva, M F B
- Ramos, R
- Rocha, H
- Lopes, A
- Fonseca, H
- Gaspar, A
- Diogo, L
- Martins, E
- Leão-Teles, E
- Vilarinho, L
- Tavares de Almeida, I
Producer: 20141209
In:
Clinical genetics vol. 85
Availability: No items available.
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18.
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Allele frequency net 2015 update: new features for HLA epitopes, KIR and disease and HLA adverse drug reaction associations. [electronic resource] by
- González-Galarza, Faviel F
- Takeshita, Louise Y C
- Santos, Eduardo J M
- Kempson, Felicity
- Maia, Maria Helena Thomaz
- da Silva, Andrea Luciana Soares
- Teles e Silva, André Luiz
- Ghattaoraya, Gurpreet S
- Alfirevic, Ana
- Jones, Andrew R
- Middleton, Derek
Producer: 20150629
In:
Nucleic acids research vol. 43
Availability: No items available.
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19.
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pHLA3D: An online database of predicted three-dimensional structures of HLA molecules. [electronic resource] by
- Menezes Teles E Oliveira, Deylane
- Melo Santos de Serpa Brandão, Rafael
- Claudio Demes da Mata Sousa, Luiz
- das Chagas Alves Lima, Francisco
- Jamil Hadad do Monte, Semiramis
- Sérgio Coelho Marroquim, Mário
- Vanildo de Sousa Lima, Antonio
- Gilberto Borges Coelho, Antonio
- Matheus Sousa Costa, Jhonatan
- Martins Ramos, Ricardo
- Socorro da Silva, Adalberto
Producer: 20200226
In:
Human immunology vol. 80
Availability: No items available.
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20.
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Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. [electronic resource] by
- Braunlin, E
- Rosenfeld, H
- Kampmann, C
- Johnson, J
- Beck, M
- Giugliani, R
- Guffon, N
- Ketteridge, D
- Sá Miranda, C M
- Scarpa, M
- Schwartz, I V
- Leão Teles, E
- Wraith, J E
- Barrios, P
- Dias da Silva, E
- Kurio, G
- Richardson, M
- Gildengorin, G
- Hopwood, J J
- Imperiale, M
- Schatz, A
- Decker, C
- Harmatz, P
Producer: 20140114
In:
Journal of inherited metabolic disease vol. 36
Availability: No items available.
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