Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in <i>PEX1</i>: Detailed clinical investigation in a 9-years-old female.

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作者： Maria Rosaria,Barillari ^[1] ; Marianthi,Karali ^[2] ; Valentina,Di Iorio ^[3] ; Maria,Contaldo ^[4] ; Vincenzo,Piccolo ^[5] ; Maria,Esposito ^[6] ; Giuseppe,Costa ^[7] ; Giuseppe,Argenziano ^[1] ; Rosario,Serpico ^[6] ; Marco,Carotenuto ^[5] ; Gerarda,Cappuccio ^[7] ; Sandro,Banfi ^[2] ; Paolo,Melillo ^[8] ; Francesca,Simonelli ^[2]

作者单位： Division of Phoniatrics and Audiology, Department of Mental and Physical Health and Preventive Medicine, University of Campania "Luigi Vanvitelli", Via L. De Crecchio 4, 80138 Naples, Italy. ^[1] Telethon Institute of Genetics and Medicine, Pozzuoli, Via Campi Flegrei 34, 80078 Pozzuoli, Italy. ^[2] Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Via L. De Crecchio 7, 80138 Naples, Italy. ^[3] Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Via Pansini 5, 80131 Naples, Italy. ^[4] Dental Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania "Luigi Vanvitelli", Via L. De Crecchio 6, 80138 Naples, Italy. ^[5] Pediatric Dermatology, Dermatology Unit, University of Campania Luigi Vanvitelli, Via Pansini 5, 80131 Naples, Italy. ^[6] Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, University of Campania "Luigi Vanvitelli", Via Pansini 5, 80131 Naples, Italy. ^[7] Department of Translational Medicine, Section of Paediatrics, Federico II University, Via Pansini 5, 80131 Naples, Italy. ^[8]

DOI 10.1016/j.ymgmr.2020.100615

PMID 32596134

发布时间 2024-03-29

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Molecular genetics and metabolism reports

2020年24卷

100615页

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Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in <i>PEX1</i>: Detailed clinical investigation in a 9-years-old female.

Molecular genetics and metabolism reports

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Molecular genetics and metabolism reports

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Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in <i>PEX1</i>: Detailed clinical investigation in a 9-years-old female.

Molecular genetics and metabolism reports

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Molecular genetics and metabolism reports

相关期刊

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