Results
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201.
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A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. [electronic resource] by
- Eng, C M
- Banikazemi, M
- Gordon, R E
- Goldman, M
- Phelps, R
- Kim, L
- Gass, A
- Winston, J
- Dikman, S
- Fallon, J T
- Brodie, S
- Stacy, C B
- Mehta, D
- Parsons, R
- Norton, K
- O'Callaghan, M
- Desnick, R J
Producer: 20010405
In:
American journal of human genetics vol. 68
Availability: No items available.
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202.
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Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series. [electronic resource] by
- Pineda, M
- Perez-Poyato, M S
- O'Callaghan, M
- Vilaseca, M A
- Pocovi, M
- Domingo, R
- Portal, L Ruiz
- Pérez, A Verdú
- Temudo, T
- Gaspar, A
- Peñas, J J Garcia
- Roldán, S
- Fumero, L Martín
- de la Barca, O Blanco
- Silva, M T García
- Macías-Vidal, J
- Coll, M J
Producer: 20100712
In:
Molecular genetics and metabolism vol. 99
Availability: No items available.
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203.
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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment. [electronic resource] by
- Serrano, Mercedes
- de Diego, Víctor
- Muchart, Jordi
- Cuadras, Daniel
- Felipe, Ana
- Macaya, Alfons
- Velázquez, Ramón
- Poo, M Pilar
- Fons, Carmen
- O'Callaghan, M Mar
- García-Cazorla, Angels
- Boix, Cristina
- Robles, Bernabé
- Carratalá, Francisco
- Girós, Marisa
- Briones, Paz
- Gort, Laura
- Artuch, Rafael
- Pérez-Cerdá, Celia
- Jaeken, Jaak
- Pérez, Belén
- Pérez-Dueñas, Belén
Producer: 20160706
In:
Orphanet journal of rare diseases vol. 10
Availability: No items available.
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204.
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Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. [electronic resource] by
- McMichael, G
- Bainbridge, M N
- Haan, E
- Corbett, M
- Gardner, A
- Thompson, S
- van Bon, B W M
- van Eyk, C L
- Broadbent, J
- Reynolds, C
- O'Callaghan, M E
- Nguyen, L S
- Adelson, D L
- Russo, R
- Jhangiani, S
- Doddapaneni, H
- Muzny, D M
- Gibbs, R A
- Gecz, J
- MacLennan, A H
Producer: 20160302
In:
Molecular psychiatry vol. 20
Availability: No items available.
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205.
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Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders. [electronic resource] by
- Cassis, Linda
- Cortès-Saladelafont, Elisenda
- Molero-Luis, Marta
- Yubero, Delia
- González, Maria Julieta
- Ormazábal, Aida
- Fons, Carme
- Jou, Cristina
- Sierra, Cristina
- Ponce, Esperanza Castejon
- Ramos, Federico
- Armstrong, Judith
- O'Callaghan, M Mar
- Casado, Mercedes
- Montero, Raquel
- Meavilla-Olivas, Silvia
- Artuch, Rafael
- Barić, Ivo
- Bartoloni, Franco
- Bellettato, Cinzia Maria
- Bonifazi, Fedele
- Ceci, Adriana
- Cvitanović-Šojat, Ljerka
- Dali, Christine I
- D'Avanzo, Francesca
- Fumic, Ksenija
- Giannuzzi, Viviana
- Lampe, Christina
- Scarpa, Maurizio
- Garcia-Cazorla, Ángels
Publication details: Orphanet journal of rare diseases 11 2016
In:
Orphanet journal of rare diseases vol. 11
Availability: No items available.
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206.
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Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders. [electronic resource] by
- Cassis, Linda
- Cortès-Saladelafont, Elisenda
- Molero-Luis, Marta
- Yubero, Delia
- González, Maria Julieta
- Ormazábal, Aida
- Fons, Carme
- Jou, Cristina
- Sierra, Cristina
- Castejon Ponce, Esperanza
- Ramos, Federico
- Armstrong, Judith
- O'Callaghan, M Mar
- Casado, Mercedes
- Montero, Raquel
- Meavilla-Olivas, Silvia
- Artuch, Rafael
- Barić, Ivo
- Bartoloni, Franco
- Bellettato, Cinzia Maria
- Bonifazi, Fedele
- Ceci, Adriana
- Cvitanović-Šojat, Ljerka
- Dali, Christine I
- D'Avanzo, Francesca
- Fumic, Ksenija
- Giannuzzi, Viviana
- Lampe, Christina
- Scarpa, Maurizio
- Garcia-Cazorla, Ángels
Producer: 20160706
In:
Orphanet journal of rare diseases vol. 10
Availability: No items available.
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