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Articles, 2 registres trobats
Articles 2 registres trobats  
1.
5 p, 885.6 KB Correction to : Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies / Opladen, Thomas (University Children's Hospital (Alemanya)) ; López-Laso, Eduardo (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ; Cortès-Saladelafont, Elisenda (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Pearson, Toni S. (Washington University School of Medicine. Department of Neurology) ; Sivri, H. Serap (Hacettepe University) ; Yildiz, Yilmaz (Hacettepe University) ; Assmann, Birgit (University Children's Hospital) ; Kurian, Manju A. (Great Ormond Street Hospital for Children (Londres)) ; Leuzzi, Vincenzo (Sapienza University of Rome. Unit of Child Neurology and Psychiatry, Department of Human Neuroscience) ; Heales, Simon (National Hospital (Regne Unit)) ; Pope, Simon (National Hospital (Regne Unit)) ; Porta, Francesco (AOU Città della Salute e della Scienza. Department of Pediatrics (Itàlia)) ; García-Cazorla, Angels (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Honzík, Tomáš (Charles University) ; Pons, Roser (Aghia Sofia Hospital) ; Regal, Luc (Pediatric Neurology and Metabolism Unit (Bèlgica)) ; Goez, Helly (University of Alberta Glenrose Rehabilitation Hospital. Department of Pediatrics) ; Artuch, R. (Institut de Recerca Sant Joan de Déu) ; Hoffmann, Georg F. (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Horvath, Gabriella (University of British Columbia. Department of Pediatrics, Division of Biochemical Genetics) ; Thöny, Beat (University Children's Hospital Zurich) ; Scholl-Bürgi, Sabine (Medical University of Innsbruck) ; Burlina, Alberto (Azienda Ospedaliera Universitaria di Padova) ; Verbeek, Marcel M. (Radboud University Medical Centre. Departments of Neurology and Laboratory Medicine) ; Mastrangelo, Mario (Sapienza University of Rome) ; Friedman, Jennifer (Rady Children's Institute for Genomic Medicine) ; Wassenberg, Tessa (Pediatric Neurology and Metabolism Unit (Bèlgica)) ; Jeltsch, Kathrin (University Children's Hospital) ; Kulhánek, Jan (Charles University) ; Kuseyri Hübschmann, Oya (University Children's Hospital) ; Universitat Autònoma de Barcelona
2020 - 10.1186/s13023-020-01464-y
Orphanet Journal of Rare Diseases, Vol. 15 (august 2020)  
2.
30 p, 1.7 MB Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH) deficiencies / Opladen, Thomas (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; López-Laso, Eduardo (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ; Cortès-Saladelafont, Elisenda (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Pearson, Toni S. (Washington University School of Medicine. Department of Neurology) ; Sivri, H. Serap (Hacettepe University, Faculty of Medicine. Department of Pediatrics, Section of Metabolism) ; Yildiz, Yilmaz (Hacettepe University, Faculty of Medicine. Department of Pediatrics, Section of Metabolism) ; Assmann, Birgit (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Kurian, Manju A. (Great Ormond Street Hospital for Children (Londres)) ; Leuzzi, Vincenzo (Sapienza University of Rome. Unit of Child Neurology and Psychiatry, Department of Human Neuroscience) ; Heales, Simon (National Hospital. Neurometabolic Unit) ; Pope, Simon (National Hospital. Neurometabolic Unit) ; Porta, Francesco (AOU Città della Salute e della Scienza. Department of Pediatrics) ; García-Cazorla, Angels (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Honzík, Tomáš (Charles University. Faculty of Medicine in Hradec Králové) ; Pons, Roser (Aghia Sofia Hospital. First Department of Pediatrics of the University of Athens) ; Regal, Luc (UZ Brussel. Department of Pediatric, Pediatric Neurology and Metabolism Unit) ; Goez, Helly (University of Alberta Glenrose Rehabilitation Hospital. Department of Pediatrics) ; Artuch, R. (Institut de Recerca Sant Joan de Déu) ; Hoffmann, Georg F. (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Horvath, Gabriella (University of British Columbia. Department of Pediatrics, Division of Biochemical Genetics, BC Children's Hospital) ; Thöny, Beat (University Children's Hospital Zurich. Division of Metabolism) ; Scholl-Bürgi, Sabine (Medical University of Innsbruck. Clinic for Pediatrics I) ; Burlina, Alberto (Azienda Ospedaliera Universitaria di Padova) ; Verbeek, Marcel M. (Radboud University Medical Centre. Departments of Neurology and Laboratory Medicine) ; Mastrangelo, Mario (Sapienza University of Rome. Unit of Child Neurology and Psychiatry, Department of Human Neuroscience) ; Friedman, Jennifer (Rady Children's Hospital Division of Neurology; Rady Children's Institute for Genomic Medicine. UCSD Departments of Neuroscience and Pediatrics) ; Wassenberg, Tessa (UZ Brussel. Department of Pediatric, Pediatric Neurology and Metabolism Unit) ; Jeltsch, Kathrin (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Kulhánek, Jan (Charles University. Faculty of Medicine in Hradec Králové) ; Kuseyri Hübschmann, Oya (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Universitat Autònoma de Barcelona
Tetrahydrobiopterin (BH) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH biosynthesis or recycling. [...]
2020 - 10.1186/s13023-020-01379-8
Orphanet Journal of Rare Diseases, Vol. 15 (may 2020)  

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