Lysozyme amyloidosis-a report on a large German cohort and the characterisation of a novel amyloidogenic lysozyme gene variant.

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作者： Sophie,Anker ^[1] ; Katrin,Hinderhofer ^[2] ; Julian,Baur ^[3] ; Christian,Haupt ^[3] ; Christoph,Röcken ^[4] ; Jörg,Beimler ^[5] ; Martin,Zeier ^[5] ; Markus,Weiler ^[6] ; Elke,Wühl ^[3] ; Christoph,Kimmich ^[7] ; Stefan,Schönland ^[3] ; Ute,Hegenbart ^[7]

作者单位： Department of Internal Medicine V (Haematology, Oncology and Rheumatology), University Hospital Heidelberg, Heidelberg, Germany. ^[1] Department of Internal Medicine I (Endocrinology and Clinical Chemistry), University Hospital Heidelberg, Heidelberg, Germany. ^[2] Amyloidosis Center, University Hospital Heidelberg, Heidelberg, Germany. ^[3] Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany. ^[4] Institute of Protein Biochemistry, Ulm University, Ulm, Germany. ^[5] Department of Pathology, Christian-Albrechts-University Kiel, Kiel, Germany. ^[6] Department of Nephrology, University Hospital Heidelberg, Heidelberg, Germany. ^[7] Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany. ^[8] Department of Paediatrics I, University Children's Hospital Heidelberg, Heidelberg, Germany. ^[9] Department of Internal Medicine (Oncology and Hematology), University Clinic Oldenburg, Oldenburg, Germany. ^[10]

关键词 Hereditary systemic amyloidosis kidney lysozyme amyloidosis lysozyme variants organ transplantation

主题词人类(Humans);胞壁质酶(Muramidase);淀粉样变性(Amyloidosis);淀粉样变, 家族性(Amyloidosis, Familial);肾疾病(Kidney Diseases);胃肠疾病(Gastrointestinal Diseases);多发性神经病(Polyneuropathies)

DOI 10.1080/13506129.2022.2072198

PMID 35533055

发布时间 2023-01-03

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