A Patient with neonatal cholestasis.

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作者： Kristl G,Claeys ^[1] ; Luc,Breysem ^[2] ; Eric,Legius ^[3] ; Hilde,Brems ^[4] ; David,Cassiman ^[5] ; Matthieu,Moisse ^[4] ; Pieter,Vermeersch ^[5] ; Elena,Levtchenko ^[6] ; Jaak,Jaeken ^[7]

作者单位： Department of Neurology, University Hospital Leuven, Leuven, Belgium. ^[1] Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium. ^[2] Department of Radiology, KU Leuven, Leuven, Belgium. ^[3] Department of Human Genetics, University Hospital Leuven, Leuven, Belgium. ^[4] Center for Human Genetics, KU Leuven, Leuven, Belgium. ^[5] Department of Hepatology and Center for Metabolic Diseases, University Hospital Leuven, Leuven, Belgium. ^[6] Department of Neurosciences, Experimental Neurology, and Leuven Brain Institute, KU Leuven, Leuven, Belgium. ^[7] VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, Leuven, Belgium. ^[8] Department of Laboratory Medicine, KU Leuven, Leuven, Belgium. ^[9] Center for Metabolic Diseases, University Hospital Leuven, Leuven, Belgium. ^[10] Pediatric Nephrology and Transplantation, University Hospital Leuven, Leuven, Belgium. ^[11] Department of Development and Regeneration, KU Leuven, Leuven, Belgium. ^[12]

关键词 CAT-2 Gilbert syndrome dynamin-2 deficiency polyostotic fibrous dysplasia

主题词成年人(Adult);夏科-马里-图斯病(Charcot-Marie-Tooth Disease);胆汁淤积(Cholestasis);纤维发育不良, 多骨(Fibrous Dysplasia, Polyostotic);人类(Humans);婴儿, 新生(Infant, Newborn);婴儿, 新生, 疾病(Infant, Newborn, Diseases);男(雄)性(Male);突变(Mutation)

DOI 10.34763/jmotherandchild.20202404.d-20-00012

PMID 33684277

发布时间 2021-12-14

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Journal of mother and child

2021年24卷4期

31-33页

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A Patient with neonatal cholestasis.

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A Patient with neonatal cholestasis.

Journal of mother and child

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Journal of mother and child

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