Zobrazeno 1 - 10 of 92 pro vyhledávání: '"García-Jiménez Mc"'
1
Akademický článek
[Epilepsy and inborn errors of metabolism].
Autor: Moya-López S; Hospital Universitario Miguel Servet, Zaragoza, España., Ruiz-Colodrero A; Hospital Universitario Miguel Servet, Zaragoza, España., Sainz-García J; Hospital Universitario Miguel Servet, Zaragoza, España., Fariña-Jara V; Hospital Universitario Miguel Servet, Zaragoza, España., García-Jiménez MC; Hospital Universitario Miguel Servet, Zaragoza, España., Castejón-Ponce E; Hospital Universitario Miguel Servet, Zaragoza, España., López-Pisón J; Hospital Universitario Miguel Servet, Zaragoza, España., Pérez-Delgado R; Hospital Universitario Miguel Servet, Zaragoza, España.
Publikováno v: Revista de neurologia [Rev Neurol] 2024 Sep 29; Vol. 79 (5), pp. 129-135.
Zobrazit plný text záznamu
2
Development and characterization of cell models harbouring mtDNA deletions for i n vitro study of Pearson syndrome
Autor: Hernández-Ainsa C, López-Gallardo E, García-Jiménez MC, Climent-Alcalá FJ, Rodríguez-Vigil C, García Fernández de Villalta M, Artuch-Iriberri R, Montoya J, Ruiz-Pesini E, Emperador S
Publikováno v: DISEASE MODELS & MECHANISMS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Pearson syndrome is a rare multisystem disease caused by single large-scale mitochondrial DNA deletions (SLSMDs). The syndrome presents early in infancy and is mainly characterised by refractory sideroblastic anaemia. Prognosis is poor and treatment
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::b4477e8f38ddc2198dd5a0875bba5fec
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20881
Zobrazit plný text záznamu
4
Akademický článek
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Autor: Kuseyri Hübschmann O; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany., Juliá-Palacios NA; Inborn Errors of Metabolism Unit, Department of Neurology, Recerca Sant Joan de Déu Institute, CIBERER-ISCIII and MetabERN, Barcelona, Spain., Olivella M; Bioinformatics and Medical Statistics Group, Faculty of Science and Technology, Vic University-University of Central Catalonia, Barcelona, Spain., Guder P; Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Zafeiriou DI; First Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece., Horvath G; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, British Columbia, Canada., Kulhánek J; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Pearson TS; Department of Neurology, Washington University School of Medicine, St Louis, MO, USA., Kuster A; Department of Neurometabolism and Metabolic Disorders, University Hospital of Nantes, Nantes, France., Cortès-Saladelafont E; Inborn Errors of Metabolism Unit, Department of Neurology, Recerca Sant Joan de Déu Institute, CIBERER-ISCIII and MetabERN, Barcelona, Spain.; Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Germans Trias i Pujol Hospital, Badalona and Faculty of Medicine, Autonomous University of Barcelona, Barcelona, Spain., Ibáñez S; Department of Pediatric Neurology, Virgen de la Arrixaca Hospital, Murcia, Spain., García-Jiménez MC; Metabolic Diseases Unit, Miguel Servet University Hospital, Zaragoza, Spain., Honzík T; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Santer R; Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Jeltsch K; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany., Garbade SF; Dietmar-Hopp Metabolic Center, University Children's Hospital Heidelberg, Heidelberg, Germany., Hoffmann GF; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany., Opladen T; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany., García-Cazorla Á; Inborn Errors of Metabolism Unit, Department of Neurology, Recerca Sant Joan de Déu Institute, CIBERER-ISCIII and MetabERN, Barcelona, Spain.
Publikováno v: Annals of neurology [Ann Neurol] 2022 Aug; Vol. 92 (2), pp. 292-303. Date of Electronic Publication: 2022 Jun 16.
Zobrazit plný text záznamu
5
Akademický článek
Postauthorization safety study of betaine anhydrous.
Autor: Mütze U; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital, Heidelberg, Germany., Gleich F; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital, Heidelberg, Germany., Garbade SF; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital, Heidelberg, Germany., Plisson C; Recordati Rare Diseases, Puteaux, France., Aldámiz-Echevarría L; Instituto de Investigación Santiago de Compostela (IDIS), Spain., Arrieta F; Endocrinology & Nutrition, Metabolic Congenital Disease, H.U. Ramon y Cajal, Madrid, Spain., Ballhausen D; Pediatric Unit for Metabolic Diseases, Woman-Mother-Child Department, Lausanne University Hospital, Lausanne, Switzerland., Zielonka M; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital, Heidelberg, Germany., Petković Ramadža D; Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine, Zagreb, Croatia., Baumgartner MR; Division of Metabolism and Children's Research Center, University Children's Hospital, University of Zurich, Zurich, Switzerland., Cano A; Centre de Référence des Maladies Héréditaires du Métabolisme, CHU La Timone Enfants, Marseille, France., García Jiménez MC; Metabolic Department, University Children Miguel Servet Hospital, Aragon, Spain., Dionisi-Vici C; Division of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Ješina P; Department of Pediatrics and Inherited Metabolic Disorders, Charles University-First Faculty of Medicine and General University Hospital, Prague, Czech Republic., Blom HJ; Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, Netherlands., Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Service of Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain., Meavilla Olivas S; Pediatrics, Gastroenterology, Hepatology and Nutrition, Hospital Sant Joan de Déu, Barcelona, Spain., Mention K; Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Jeanne de Flandre, Lille, France., Mochel F; Ap.HP, Sorbonne University, Reference Center for Adult Neurometabolic Diseases, La Pitié-Salpêtrière University Hospital, Paris, France., Morris AAM; Alder Hey Children's NHS Foundation Trust, Liverpool, UK.; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Trust, Manchester, UK., Mundy H; Evelina London Children's Hospital, London, UK., Redonnet-Vernhet I; Endocrinology, Nutrition and Metabolic Diseases, Haut-Lévêque Hospital, Bordeaux University, Bordeaux, France., Santra S; Department of Clinical Inherited Metabolic Disorders, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Schiff M; Necker Hospital, APHP, Reference Center for Inborn Error of Metabolism and Filière G2M, Pediatrics Department, University of Paris, Paris, France.; Inserm UMR_S1163, Institut Imagine, Paris, France., Servais A; Nephrology and Transplantation, MAMEA Reference Center, Necker hospital, APHP, Paris, France., Vitoria I; Unit of Metabolic Disorders, Universitary Hospital La Fe, Valencia, Spain., Huemer M; Division of Metabolism and Children's Research Center, University Children's Hospital, University of Zurich, Zurich, Switzerland.; Department of Pediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria., Kožich V; Department of Pediatrics and Inherited Metabolic Disorders, Charles University-First Faculty of Medicine and General University Hospital, Prague, Czech Republic., Kölker S; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital, Heidelberg, Germany.
Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Jul; Vol. 45 (4), pp. 719-733. Date of Electronic Publication: 2022 Apr 06.
Zobrazit plný text záznamu
7
Akademický článek
Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome.
Autor: Hernández-Ainsa C; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50013 Zaragoza, Spain.; Instituto de Investigación Sanitaria de Aragón (IIS-Aragón), 50009 Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain., López-Gallardo E; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50013 Zaragoza, Spain.; Instituto de Investigación Sanitaria de Aragón (IIS-Aragón), 50009 Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain., García-Jiménez MC; Servicio de Pediatría. Hospital Universitario Miguel Servet, 50009 Zaragoza, Spain., Climent-Alcalá FJ; Unidad de Patología Compleja, Servicio de Pediatría. Hospital Universitario La Paz, 28046 Madrid, Spain., Rodríguez-Vigil C; Servicio de Pediatría. Hospital Universitario Miguel Servet, 50009 Zaragoza, Spain., García Fernández de Villalta M; Unidad de Patología Compleja, Servicio de Pediatría. Hospital Universitario La Paz, 28046 Madrid, Spain., Artuch R; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.; Clinical Biochemistry, Genetics, Pediatric Neurology and Neonatalogy Departments, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain., Montoya J; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50013 Zaragoza, Spain.; Instituto de Investigación Sanitaria de Aragón (IIS-Aragón), 50009 Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain., Ruiz-Pesini E; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50013 Zaragoza, Spain.; Instituto de Investigación Sanitaria de Aragón (IIS-Aragón), 50009 Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain., Emperador S; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50013 Zaragoza, Spain.; Instituto de Investigación Sanitaria de Aragón (IIS-Aragón), 50009 Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.
Publikováno v: Disease models & mechanisms [Dis Model Mech] 2022 Mar 01; Vol. 15 (3). Date of Electronic Publication: 2022 Mar 01.
Zobrazit plný text záznamu
8
Protocolo de deficiencias congénitas del metabolismo de vitaminas. Tiamina, riboflavina, piridoxina, biotina, cobalamina, folato
Autor: García-Jiménez MC, Delgado-Pecellin C, González-Lamuño D, Ortigoza-Escobar JD, Pérez-Dueñas B, Pérez-Cerdá C
Publikováno v: Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::01aa06696241a84d70d99380ea17306e
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13998
Zobrazit plný text záznamu
9
Report
Encephalopathy, kidney failure and retinopathy. CoQ10 deficiency due to COQ8B mutation.
Autor: Adán Lanceta V; Servicio de Pediatría, Hospital Obispo Polanco, Teruel, Spain. Electronic address: victoradanlanceta@gmail.com., Romero Salas Y; Unidad de Nefrología Pediátrica, Hospital Infantil Universitario Miguel Servet, Zaragoza, Spain., Justa Roldán ML; Unidad de Nefrología Pediátrica, Hospital Infantil Universitario Miguel Servet, Zaragoza, Spain., García Jiménez MC; Unidad de Metabolopatías, Hospital Universitario Miguel Servet, Zaragoza, Spain., Ariceta Iraola G; Servicio de Nefrología Pediátrica, Hospital Vall d'Hebron, Barcelona, Spain.
Publikováno v: Anales de pediatria [An Pediatr (Engl Ed)] 2021 Jun; Vol. 94 (6), pp. 415-417. Date of Electronic Publication: 2021 Apr 27.
Zobrazit plný text záznamu
10
Report
[Lysosomal acid lipase deficiency: A rarely recognised cause of dyslipidaemia and liver dysfunction].
Autor: Marín Andrés M; Unidad de Neurometabolismo, Hospital Universitario Miguel Servet, Zaragoza, España. Electronic address: marta_marin91@hotmail.com., Ros Arnal I; Unidad de Gastroenterología, Hepatología y Nutrición Pediátrica, Hospital Universitario Miguel Servet, Zaragoza, España., Cebolla Sanz JJ; Instituto de Investigación Sanitaria Aragón, Grupo de estudio de enfermedades metabólicas y neoplasias hematológicas, Zaragoza, España., Pérez Delgado R; Unidad de Neurometabolismo, Hospital Universitario Miguel Servet, Zaragoza, España., García Jiménez MC; Unidad de Neurometabolismo, Hospital Universitario Miguel Servet, Zaragoza, España.
Publikováno v: Anales de pediatria [An Pediatr (Engl Ed)] 2021 Jan; Vol. 94 (1), pp. 50-51. Date of Electronic Publication: 2020 Jul 28.
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje