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Wyświetlanie 1-15 z 15
Tytuł :
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
Autorzy :
Forny P; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Hörster F; Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Ballhausen D; Paediatric Unit for Metabolic Diseases, Department of Woman-Mother-Child, University Hospital Lausanne, Lausanne, Switzerland.
Chakrapani A; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust and Institute for Child Health, NIHR Biomedical Research Center (BRC), University College London, London, UK.
Chapman KA; Rare Disease Institute, Children's National Health System, Washington, District of Columbia, USA.
Dionisi-Vici C; Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, Rome, Italy.
Dixon M; Dietetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Grünert SC; Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre-University of Freiburg, Faculty of Medicine, Freiburg, Germany.
Grunewald S; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust and Institute for Child Health, NIHR Biomedical Research Center (BRC), University College London, London, UK.
Haliloglu G; Department of Pediatrics, Division of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
Hochuli M; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland.
Honzik T; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Karall D; Department of Paediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
Martinelli D; Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, Rome, Italy.
Molema F; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Sass JO; Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein Sieg University of Applied Sciences, Rheinbach, Germany.
Scholl-Bürgi S; Department of Paediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
Tal G; Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.
Williams M; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Huemer M; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Department of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria.
Baumgartner MR; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
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Źródło :
Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Feb 17. Date of Electronic Publication: 2021 Feb 17.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.
Autorzy :
Haliloglu G; Department of Pediatric Neurology, Hacettepe University Children's Hospital, 06100, Ankara, Turkey.
Talim B; Pediatric Pathology Unit, Hacettepe University Children's Hospital, 06100, Ankara, Turkey.
Sel CG; Department of Pediatric Neurology, Dr. Sami Ulus Research and Training Hospital of Women's and Children's Health and Diseases, Ankara, Turkey.
Topaloglu H; Department of Pediatric Neurology, Hacettepe University Children's Hospital, 06100, Ankara, Turkey. .
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Źródło :
Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Nov; Vol. 38 (6), pp. 1099-108. Date of Electronic Publication: 2015 Jun 12.
Typ publikacji :
Journal Article
MeSH Terms :
Choline Kinase/*genetics
Intellectual Disability/*genetics
Mitochondria/*ultrastructure
Muscle, Skeletal/*pathology
Muscular Dystrophies/*genetics
Adolescent ; Child ; Child, Preschool ; Choline Kinase/blood ; Female ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Microcephaly/genetics ; Muscle Hypotonia/genetics ; Muscle Weakness/genetics ; Mutation ; Phenotype ; Tertiary Care Centers ; Turkey
SCR Disease Name :
Muscular Dystrophy, Congenital, Megaconial Type
Czasopismo naukowe
    Wyświetlanie 1-15 z 15

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