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A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
Pronicka, Ewa; Ropacka-Lesiak, Mariola; Trubicka, Joanna; Pajdowska, Magdalena; Linke, Markus; Ostergaard, Elsebet; Saunders, Carol; Horsch, Sandra; van Karnebeek, Clara; Yaplito-Lee, Joy; Distelmaier, Felix; Õunap, Katrin; Rahman, Shamima; Castelle, Martin; Kelleher, John; Baris, Safa; Iwanicka-Pronicka, Katarzyna; Steward, Colin G; Ciara, Elzbieta; Wortmann, Saskia B.
Afiliación
  • Pronicka E; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
  • Ropacka-Lesiak M; Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.
  • Trubicka J; Department of Perinatology and Gynaecology, University of Medical Sciences, Poznan, Poland.
  • Pajdowska M; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
  • Linke M; Department of Biochemistry and Experimental Medicine, Children's Memorial Health Institute, Warsaw, Poland.
  • Ostergaard E; Department of Neonatology, DRK Children's Hospital Siegen, Siegen, Germany.
  • Saunders C; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100, Copenhagen, Denmark.
  • Horsch S; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, 64108, USA.
  • van Karnebeek C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, 64108, USA.
  • Yaplito-Lee J; Department of Neonatology, Helios Klinikum, Berlin-Buch, Germany.
  • Distelmaier F; Division of Biochemical Diseases, Department of Pediatrics, B.C. Children's Hospital, Treatable Intellectual Disability Endeavour, Vancouver, BC, V6H 3N4, Canada.
  • Õunap K; Department of Metabolic Medicine, Murdoch Childrens Research Institute, The Royal Children's Hospital Melbourne, Parkville, VIC, 3052, Australia.
  • Rahman S; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Moorenstr. 5, 40225, Duesseldorf, Germany.
  • Castelle M; Department of Genetics, United Laboratories, Tartu University Hospital, 51014, Tartu, Estonia.
  • Kelleher J; Department of Pediatrics, Institute of Clinical Medicine, University of Tartu, 51014, Tartu, Estonia.
  • Baris S; UCL Institute of Child Health, London, WC1N 1EH, UK.
  • Iwanicka-Pronicka K; Department of Hemato-Immunology, Hospital Necker-Enfants malades, Paris, France.
  • Steward CG; Department of Neonatology, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
  • Ciara E; Division of Pediatric Allergy/Immunology, Marmara University, Istanbul, Turkey.
  • Wortmann SB; Department of Audiology and Phoniatrics, Children's Memorial Health Institute, Warsaw, Poland.
J Inherit Metab Dis ; 40(6): 853-860, 2017 11.
Article en En | MEDLINE | ID: mdl-28687938
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Catarata / Endopeptidasa Clp / Errores Innatos del Metabolismo / Neutropenia Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: J Inherit Metab Dis Año: 2017 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Catarata / Endopeptidasa Clp / Errores Innatos del Metabolismo / Neutropenia Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: J Inherit Metab Dis Año: 2017 Tipo del documento: Article