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9 p, 799.8 KB |
Phosphomannomutase deficiency (PMM2-CDG) : ataxia and cerebellar assessment
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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)
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190 p, 1.1 MB |
Mitochondrial disorders in childhood : : from general characteristics to new aspects
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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
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