Genetic assessment in primary hyperoxaluria: why it matters.

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作者： Giorgia,Mandrile ^[1] ; Bodo,Beck ^[2] ; Cecile,Acquaviva ^[3] ; Gill,Rumsby ^[4] ; Lisa,Deesker ^[5] ; Sander,Garrelfs ^[6] ; Asheeta,Gupta ^[6] ; Justine,Bacchetta ^[7] ; Jaap,Groothoff ^[8] ; OxalEurope Consortium/Erknet Guideline Workgroup On Hyperoxaluria ^[9]

作者单位： Medical Genetics Unit and Thalassemia Center, San Luigi University Hospital, University of Torino, Orbassano, TO, Italy. ^[1] Institute of Human Genetics, Center for Molecular Medicine Cologne, and Center for Rare and Hereditary Kidney Disease, University Hospital of Cologne, CologneCologne, Germany. ^[2] Service de Biochimie Et Biologie Moléculaire, Hospices Civils de Lyon, UM Pathologies Héréditaires du Métabolisme Et du Globule Rouge, Lyon, France. ^[3] Department of Clinical Biochemistry, University College London Hospitals NHS Foundation Trust ^[4] UCLH, Kintbury, UK. ^[5] Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, Netherlands. ^[6] Department of Nephrology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK. ^[7] Reference Center for Rare Renal Diseases, Pediatric Nephrology-Rheumatology-Dermatology Unit, Hospices Civils de Lyon, Femme Mere Enfant Hospital, Lyon 1 University, Bron, France. ^[8] Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, Netherlands. j.w.groothoff@amsterdamumc.nl. ^[9]

关键词 AGXT GRHPR Genetics HOGA1 Primary hyperoxaluria

主题词人类(Humans);高草酸尿症, 原发性(Hyperoxaluria, Primary);吡多辛(Pyridoxine);突变(Mutation);基因检测(Genetic Testing);基因型(Genotype);转氨酶类(Transaminases)

DOI 10.1007/s00467-022-05613-2

PMID 35695965

发布时间 2024-09-11

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