Results
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41.
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42.
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Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease. [electronic resource] by
- Jardim, L B
- Gomes, I
- Netto, C B O
- Nora, D B
- Matte, U S
- Pereira, F
- Burin, M G
- Kalakun, L
- Giugliani, R
- Becker, J
Producer: 20070117
In:
Journal of inherited metabolic disease vol. 29
Availability: No items available.
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43.
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In vitro effect of genistein on DNA damage in leukocytes from mucopolysaccharidosis IVA patients. [electronic resource] by
- Negretto, G W
- Deon, M
- Burin, M
- Biancini, G B
- Ribas, G
- Garcia, S C
- Goethel, G
- Fracasso, R
- Giugliani, L
- Giugliani, R
- Vargas, C R
Producer: 20140923
In:
Molecular genetics and metabolism vol. 111
Availability: No items available.
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44.
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CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy. [electronic resource] by
- Jardim, L
- Vedolin, L
- Schwartz, I V D
- Burin, M G
- Cecchin, C
- Kalakun, L
- Matte, U
- Aesse, F
- Pitta-Pinheiro, C
- Marconato, J
- Giugliani, R
Producer: 20041230
In:
Journal of inherited metabolic disease vol. 27
Availability: No items available.
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45.
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Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family. [electronic resource] by
- Schwartz, I
- Silva, L R
- Leistner, S
- Todeschini, L A
- Burin, M G
- Pina-Neto, J M
- Islam, R M
- Shah, G N
- Sly, W S
- Giugliani, R
Producer: 20040316
In:
Clinical genetics vol. 64
Availability: No items available.
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46.
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Synthesis, structure and luminescent properties of lanthanide fluoroalkoxides. [electronic resource] by
- Kuzyaev, D M
- Balashova, T V
- Burin, M E
- Fukin, G K
- Rumyantcev, R V
- Pushkarev, A P
- Ilichev, V A
- Grishin, I D
- Vorozhtsov, D L
- Bochkarev, M N
Producer: 20160615
In:
Dalton transactions (Cambridge, England : 2003) vol. 45
Availability: No items available.
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47.
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Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis. [electronic resource] by
- Ribas, G S
- Souza, H M
- de Mari, J
- Deon, M
- Mescka, C
- Saraiva-Pereira, M L
- Kessler, R
- Trapp, F
- Michelin, K
- Burin, M
- Vargas, C R
- Giugliani, R
Producer: 20170206
In:
Clinica chimica acta; international journal of clinical chemistry vol. 459
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48.
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Exome sequencing for mucolipidosis III: Detection of a novel [electronic resource] by
- Sperb-Ludwig, F
- Alegra, T
- Velho, R V
- Ludwig, N
- Kim, C A
- Kok, F
- Kitajima, J P
- van Meel, E
- Kornfeld, S
- Burin, M G
- Schwartz, I V D
Publication details: Molecular genetics and metabolism reports Mar 2015
In:
Molecular genetics and metabolism reports vol. 2
Availability: No items available.
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49.
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Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients. [electronic resource] by
- Petry, M F G
- Nonemacher, K
- Sebben, J C
- Schwartz, I V D
- Azevedo, A C M
- Burin, M G
- de Rezende, A R
- Kim, C A
- Giugliani, R
- Leistner-Segal, S
Producer: 20060705
In:
Journal of inherited metabolic disease vol. 28
Availability: No items available.
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50.
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Clinical and laboratorial study of 19 cases of mucopolysaccharidoses. [electronic resource] by
- Albano, L M
- Sugayama, S S
- Bertola, D R
- Andrade, C E
- Utagawa, C Y
- Puppi, F
- Nader, H B
- Toma, L
- Coelho, J
- Leistner, S
- Burin, M
- Giugliani, R
- Chong, A K
Producer: 20010628
In:
Revista do Hospital das Clinicas vol. 55
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51.
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Infantile sialic acid storage disease: report of the first case in South America. [electronic resource] by
- Utagawa, C Y
- Sugayama, S M
- Ribeiro, E M
- Bertola, D R
- Baba, E R
- Burin, M G
- Lewis, E
- Coelho, H C
- Fensom, A H
- Marques-Dias, M J
- Gonzales, C H
- Kim, C A
- Giugliani, R
Producer: 19990824
In:
Clinical genetics vol. 55
Availability: No items available.
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52.
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Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. [electronic resource] by
- Cury, G K
- Matte, U
- Artigalás, O
- Alegra, T
- Velho, R V
- Sperb, F
- Burin, M G
- Ribeiro, E M
- Lourenço, C M
- Kim, C A
- Valadares, E R
- Galera, M F
- Acosta, A X
- Schwartz, I V D
Producer: 20130715
In:
Gene vol. 524
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53.
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Expert recommendations for the laboratory diagnosis of MPS VI. [electronic resource] by
- Wood, T
- Bodamer, O A
- Burin, M G
- D'Almeida, V
- Fietz, M
- Giugliani, R
- Hawley, S M
- Hendriksz, C J
- Hwu, W L
- Ketteridge, D
- Lukacs, Z
- Mendelsohn, N J
- Miller, N
- Pasquali, M
- Schenone, A
- Schoonderwoerd, K
- Winchester, B
- Harmatz, P
Producer: 20120925
In:
Molecular genetics and metabolism vol. 106
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54.
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Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. [electronic resource] by
- Azevedo, A C M M
- Schwartz, I V
- Kalakun, L
- Brustolin, S
- Burin, M G
- Beheregaray, A P C
- Leistner, S
- Giugliani, C
- Rosa, M
- Barrios, P
- Marinho, D
- Esteves, P
- Valadares, E
- Boy, R
- Horovitz, D
- Mabe, P
- da Silva, L C S
- de Souza, I C N
- Ribeiro, M
- Martins, A M
- Palhares, D
- Kim, C A
- Giugliani, R
Producer: 20050308
In:
Clinical genetics vol. 66
Availability: No items available.
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55.
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Clinical and biochemical studies in mucopolysaccharidosis type II carriers. [electronic resource] by
- Schwartz, I V D
- Pinto, L L C
- Breda, G
- Lima, L
- Ribeiro, M G
- Mota, J G
- Acosta, A X
- Correia, P
- Horovitz, D D G
- Porciuncula, C G G
- Lipinski-Figueiredo, E
- Fett-Conte, A C
- Oliveira Sobrinho, R P
- Norato, D Y J
- Paula, A C
- Kim, C A
- Duarte, A R
- Boy, R
- Leistner-Segal, S
- Burin, M G
- Giugliani, R
Producer: 20100402
In:
Journal of inherited metabolic disease vol. 32
Availability: No items available.
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