UAB Digital Repository of Documents 9 records found  Search took 0.01 seconds. 
1.
9 p, 799.8 KB Phosphomannomutase deficiency (PMM2-CDG) : ataxia and cerebellar assessment / Serrano, Mercedes (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Passeig Sant Joan de Déu) ; de Diego, Víctor (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ; Muchart, Jordi (Radiology Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ; Cuadras, Daniel (Statistics Department, Fundació Sant Joan de Déu) ; Felipe, Ana (Institut de Recerca Vall d'Hebron (VHIR). Grup de Recerca en Neurologia Pediàtrica) ; Macaya Ruiz, Alfons (Institut de Recerca Vall d'Hebron (VHIR). Grup de Recerca en Neurologia Pediàtrica) ; Velázquez, Ramón (Neurology Department, Hospital Universitario La Paz) ; Poo, M. Pilar (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ; Fons, Carmen (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ; O'Callaghan, M. Mar (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ; García-Cazorla, Angels (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ; Boix, Cristina (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ; Robles, Bernabé (Neurology Department, Hospital General de Sant Boi, Parc Sanitari Sant Joan de Déu) ; Carratalá, Francisco (Neurology Department, Hospital Sant Joan d'Alacant) ; Girós, Marisa (Hospital Clinic-IBC, IDIBAPS, Instituto de Salud Carlos III, U-737 Centre for Biomedical Research on Rare Diseases (CIBER-ER)) ; Briones, Paz (Hospital Clinic-IBC, IDIBAPS, Instituto de Salud Carlos III, U-737 Centre for Biomedical Research on Rare Diseases (CIBER-ER)) ; Gort, Laura (Hospital Clinic-IBC, IDIBAPS, Instituto de Salud Carlos III, U-737 Centre for Biomedical Research on Rare Diseases (CIBER-ER)) ; Artuch, Rafael (Clinical Biochemistry Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ; Pérez-Cerdá, Celia (Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Universidad Autónoma de Madrid (UAM), U-746 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Madrid, Instituto de Salud Carlos III, IdiPAZ) ; Jaeken, Jaak (Center for Metabolic Disease, KULeuven) ; Pérez, Belén (Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Universidad Autónoma de Madrid (UAM), U-746 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Madrid, Instituto de Salud Carlos III, IdiPAZ) ; Pérez-Dueñas, Belén (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ; Universitat Autònoma de Barcelona ; Hospital Universitari Vall d'Hebron. Secció de Neurologia Pediàtrica
Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. [...]
2015 - 10.1186/s13023-015-0358-y
Orphanet Journal of Rare Diseases, Vol. 10 (october 2015)  
2.
2 p, 247.9 KB Targeta d'Àngels García a José Agustín Goytisolo / García, Àngels
1998  
 UAB restricted access
3.
2 p, 615.9 KB Carta de Maria dels Àngels García Bach (Austin, TX, EUA) a Pere Pascual comentant diverses notícies / García Bach, Maria dels Àngels
11 agost 1975  
 UAB restricted access
4.
190 p, 1.1 MB Mitochondrial disorders in childhood : from general characteristics to new aspects / García Cazorla, Àngels ; Pintos Morell, Guillem, dir. (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia, Ginecologia i de Medicina Preventiva)
Las enfermedades mitocondriales pueden ser englobadas dentro de las enfermedades raras de la edad pediátrica. Esta tesis recoge aspectos clínicos, bioquímicos y genéticos de 241 pacientes con enfermedades mitocondriales diagnosticados en el hospital «Necker-Enfants Malades, Paris», en el período comprendido entre los años 1977 al 2002. [...]
Mitochondrial disorders are rare causes of disease in childhood. This thesis reports clinical, biochemical and genetic aspects of 241 paediatric patients with mitochondrial disorders diagnosed in the «Hôpital Necker-Enfants Malades, Paris» from 1977 to 2002. [...]

Bellaterra : Universitat Autònoma de Barcelona, 2007  
5.
12 p, 317.2 KB Effect of floods of different magnitude on the macroinvertebrate communities of Matarranya stream (Ebro river basin, NE Spain) / Argerich, Alba (Consejo Superior de Investigaciones Científicas (Espanya). Centre d'Estudis Avançats de Blanes) ; Puig García, Mª Àngels (Consejo Superior de Investigaciones Científicas (Espanya). Centre d'Estudis Avançats de Blanes) ; Pupilli, Elisa (Consejo Superior de Investigaciones Científicas (Espanya). Centre d'Estudis Avançats de Blanes)
In October 2000, the Matarranya River suffered an extraordinary flood with a measured flow rate of approximately 450 m3/s in the town of Vall-de-roures and a return period of about 500 years, according to the Ebro Hydrographic Confederation. [...]
El río Matarranya padeció en octubre de 2000 una riada extraordinaria, que alcanzó un caudal aproximado de 450 m3/s en la población de Vall-de-roures, con un período de retorno estimado de 500 años según la Confederación Hidrográfica del Ebro. [...]

2004
Limnética, V. 23 n. 3-4 (2004) p. 283-294  
6.
1 p, 56.3 KB Targeta d'Àngels Garcia a José Agustín Goytisolo / Garcia, Àngels
1996 , 1996  
 UAB restricted access
7.
1 p, 58.7 KB Targeta d'Àngels Garcia a José Agustín Goytisolo / Garcia, Àngels
1996 , 1996  
 UAB restricted access
8.
1 p, 70.7 KB Targeta d'Àngels Garcia a José Agustín Goytisolo / Garcia, Àngels
1995 , 1995  
 UAB restricted access
9.
1 p, 102.8 KB Carta mecanografiada d'Àngels Garcia a José Agustín Goytisolo / Garcia, Àngels
1997 , 1997  
 UAB restricted access

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