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Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. [electronic resource] by
- Georgiou, T
- Drousiotou, A
- Campos, Y
- Caciotti, A
- Sztriha, L
- Gururaj, A
- Ozand, P
- Zammarchi, E
- Morrone, A
- D'Azzo, A
Producer: 20050331
In:
Human mutation vol. 24
Availability: No items available.
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53.
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54.
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beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. [electronic resource] by
- Morrone, A
- Bardelli, T
- Donati, M A
- Giorgi, M
- Di Rocco, M
- Gatti, R
- Parini, R
- Ricci, R
- Taddeucci, G
- D'Azzo, A
- Zammarchi, E
Producer: 20000516
In:
Human mutation vol. 15
Availability: No items available.
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55.
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Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. [electronic resource] by
- Zhou, X Y
- van der Spoel, A
- Rottier, R
- Hale, G
- Willemsen, R
- Berry, G T
- Strisciuglio, P
- Morrone, A
- Zammarchi, E
- Andria, G
- d'Azzo, A
Producer: 19970314
In:
Human molecular genetics vol. 5
Availability: No items available.
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56.
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Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. [electronic resource] by
- Caciotti, A
- Di Rocco, M
- Filocamo, M
- Grossi, S
- Traverso, F
- d'Azzo, A
- Cavicchi, C
- Messeri, A
- Guerrini, R
- Zammarchi, E
- Donati, M A
- Morrone, Amelia
Producer: 20100101
In:
Journal of neurology vol. 256
Availability: No items available.
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57.
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Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells. [electronic resource] by
- Zhou, X Y
- Morreau, H
- Rottier, R
- Davis, D
- Bonten, E
- Gillemans, N
- Wenger, D
- Grosveld, F G
- Doherty, P
- Suzuki, K
- Grosveld, G C
- d'Azzo, A
Producer: 19951226
In:
Genes & development vol. 9
Availability: No items available.
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58.
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Workshop on inborn errors of metabolism. [electronic resource] by
- Rosenberg, L E
- Desnick, R J
- Bach, G
- van Diggelen, O P
- d'Azzo, A
- Mueller, O T
- Wolf, B
- Kraus, J P
- Velazquez, A
- Berman, M
- Chemke, J
Producer: 19830415
In:
Progress in clinical and biological research vol. 103 Pt B
Availability: No items available.
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59.
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Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. [electronic resource] by
- Jeyakumar, M
- Thomas, R
- Elliot-Smith, E
- Smith, D A
- van der Spoel, A C
- d'Azzo, A
- Perry, V Hugh
- Butters, T D
- Dwek, R A
- Platt, F M
Producer: 20030522
In:
Brain : a journal of neurology vol. 126
Availability: No items available.
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