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Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center
Institution:1. Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, United States;2. Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, United States;3. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States;1. Institut Pasteur de Tunis, Laboratoire de Génomique Biomédicale et Oncogénétique, Tunis 1002, Tunisia;2. Service de Pediatrie, Unité de Recherche des Néphropathies Héréditaires Familiales (02/UR/08-12) Hôpital Sahloul, Sousse, Tunisia;3. Laboratoire Central de Biologie Médicale, Institut Pasteur de Tunis, Tunisia;4. Université Tunis El Manar, Tunis 1068, Tunisia;1. Medical Genetics Unit, San Luigi University Hospital, Orbassano, Torino, Italy;2. University of Torino, Department Clinical and Biological Sciences, Torino, Italy;3. Division of Nephrology, Department of Pediatrics, Emma Children’s Hospital, Academic Medical Centre, Amsterdam, The Netherlands;4. Institute of Human Genetics, University of Cologne, Cologne, Germany;5. Laboratory of Inborn Metabolic Diseases, Centre de Biologie Est, Hospices Civils de Lyon, Lyon, France;6. Department of Nephrology, Birmingham Children’s Hospital NHS Trust, Birmingham, UK;7. Clinical Biochemistry, UCL Hospitals, London, UK
Abstract:
Keywords:End-stage renal disease  Nephrocalcinosis  Nephrolithiasis  Oxalosis  Post-transplantation recurrence  Primary hyperoxaluria type 1
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