Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders Inherited metabolic diseases

Autor: Cassis, Linda, Cortès Saladelafont, Elisenda, Molero Luis, Marta, Yubero, Delia, González, Maria Julieta, Herrero, Aida Ormazabal, Fons, Carme, Jou, Cristina, Sierra, Cristina, Castejon Ponce, Esperanza, Ramos, Federico, Armstrong, Judith, O'Callaghan, M. Mar, Casado, Mercedes, Montero, Raquel, Olivas, Silvia Maria Meavilla, 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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3657::223280a8b7b7cb20d931de42ee6095aa
http://hdl.handle.net/11577/3178423

Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.

Autor: Cassis L; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain., Cortès-Saladelafont E; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain., Molero-Luis M; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain., Yubero D; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain., González MJ; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain., Ormazábal A; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain., Fons C; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain., Jou C; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain., Sierra C; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain., Ponce EC; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain., Ramos F; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain., Armstrong J; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain., O'Callaghan MM; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain., Casado M; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain., Montero R; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain., Meavilla-Olivas S; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain., Artuch R; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain., Barić I; Department of Pediatrics, University Hospital Center Zagreb, Zagreb & University of Zagreb, School of Medicine, Zagreb, Croatia., Bartoloni F; Gianni Benzi Pharmacological Research Foundation, Valenzano, BA, Italy., Bellettato CM; Department of Women and Children Health, Brains for Brain Foundation, Padova, Italy., Bonifazi F; Gianni Benzi Pharmacological Research Foundation, Valenzano, BA, Italy., Ceci A; Gianni Benzi Pharmacological Research Foundation, Valenzano, BA, Italy., Cvitanović-Šojat L; Department of Pediatrics, University Hospital Center Zagreb, Zagreb & University of Zagreb, School of Medicine, Zagreb, Croatia., Dali CI; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., D'Avanzo F; Department of Women and Children Health, Brains for Brain Foundation, Padova, Italy., Fumic K; Department of Pediatrics, University Hospital Center Zagreb, Zagreb & University of Zagreb, School of Medicine, Zagreb, Croatia., Giannuzzi V; Gianni Benzi Pharmacological Research Foundation, Valenzano, BA, Italy., Lampe C; Department of Women and Children Health, Brains for Brain Foundation, Padova, Italy.; Department of Pediatric and Adolescent Medicine, Centre for Rare Diseases, Horst Schmidt Klinik Wiesbaden, Wiesbaden, Germany., Scarpa M; Department of Women and Children Health, Brains for Brain Foundation, Padova, Italy.; Department of Pediatric and Adolescent Medicine, Centre for Rare Diseases, Horst Schmidt Klinik Wiesbaden, Wiesbaden, Germany.; Department of Women's and Children's Health, University of Padova, Padova, Italy., Garcia-Cazorla Á; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain. agarcia@hsjdbcn.org.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2016 Nov 03; Vol. 11 (1), pp. 147. Date of Electronic Publication: 2016 Nov 03.

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Autor: Serrano M; 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, 2. 08950 Esplugues, Barcelona, Spain. mserrano@hsjdbcn.org., de Diego V; 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, 2. 08950 Esplugues, Barcelona, Spain., Muchart J; Radiology Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain., Cuadras D; Statistics Department, Fundació Sant Joan de Déu, Barcelona, Spain., Felipe A; Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Secció de Neurologia Pediàtrica, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Macaya A; Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Secció de Neurologia Pediàtrica, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Velázquez R; Neurology Department, Hospital Universitario La Paz, Madrid, Spain., Poo MP; 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, 2. 08950 Esplugues, Barcelona, Spain., Fons C; 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, 2. 08950 Esplugues, Barcelona, Spain., O'Callaghan MM; 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, 2. 08950 Esplugues, Barcelona, Spain., García-Cazorla A; 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, 2. 08950 Esplugues, Barcelona, Spain., Boix C; 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, 2. 08950 Esplugues, Barcelona, Spain., Robles B; Neurology Department, Hospital General de Sant Boi, Parc Sanitari Sant Joan de Déu, Sant Boi, Barcelona, Spain., Carratalá F; Neurology Department, Hospital Sant Joan d'Alacant, Alicante, Spain., Girós M; Hospital Clinic-IBC, IDIBAPS, Instituto de Salud Carlos III, U-737 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Barcelona, Spain., Briones P; Hospital Clinic-IBC, IDIBAPS, Instituto de Salud Carlos III, U-737 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Barcelona, Spain., Gort L; Hospital Clinic-IBC, IDIBAPS, Instituto de Salud Carlos III, U-737 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Barcelona, Spain., Artuch R; Clinical Biochemistry Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain., Pérez-Cerdá C; 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, Madrid, Spain., Jaeken J; Center for Metabolic Disease, KULeuven, Leuven, Belgium., Pérez B; 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, Madrid, Spain., Pérez-Dueñas B; 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, 2. 08950 Esplugues, Barcelona, Spain.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 Oct 26; Vol. 10, pp. 138. Date of Electronic Publication: 2015 Oct 26.