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Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion.

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第一作者： Martin,Merkel

第一单位： Endokrinologikum Hamburg, Lornsenstraße 6, 22767, Hamburg, Germany. Martin.Merkel@amedes-group.com.;Asklepios Campus Hamburg, Semmelweis University, Hamburg, Germany. Martin.Merkel@amedes-group.com.

作者： Martin,Merkel ^[1] ; Daniela,Berg ^[2] ; Norbert,Brüggemann ^[3] ; Joseph,Classen ^[4] ; Tina,Mainka ^[5] ; Simone,Zittel ^[6] ; Ania C,Muntau ^[7]

作者单位： Endokrinologikum Hamburg, Lornsenstraße 6, 22767, Hamburg, Germany. Martin.Merkel@amedes-group.com.;Asklepios Campus Hamburg, Semmelweis University, Hamburg, Germany. Martin.Merkel@amedes-group.com. ^[1] Department of Neurology, Christian-Albrechts University, Kiel, Germany. ^[2] Department of Neurology, University of Lübeck, Lübeck, Germany. ^[3] Department of Neurology, Leipzig University Medical Center, Leipzig, Germany. ^[4] Department of Neurology, Charité University Medicine Berlin, Berlin, Germany.;Berlin Institute of Health at Charité Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Clinician Scientist Program, Berlin, Germany. ^[5] Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. ^[6] University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. ^[7]

关键词 Adult Diagnosis Neurological signs and symptoms PKU Phenylketonuria

医学主题词人类(Humans);成年人(Adult);儿童(Child);诊断, 鉴别(Diagnosis, Differential);苯丙酮尿症(Phenylketonurias);神经系统疾病(Nervous System Diseases);震颤(Tremor)

DOI 10.1007/s00415-023-11703-4

PMID 37081197

发布时间 2025-06-26

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