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Identification of ETFDH gene c. 487 + 2 T > A pathogenic variant and mechanisms for polycystic kidney in neonatal onset MADD.

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Title: Identification of ETFDH gene c. 487 + 2 T > A pathogenic variant and mechanisms for polycystic kidney in neonatal onset MADD.
Authors: Zhang, Bijun1 (AUTHOR), Zhang, Dongyang1 (AUTHOR), Sun, Feiyue1 (AUTHOR), Si, Xinxin2 (AUTHOR), Luan, Meng3 (AUTHOR) luanm@sj-hospital.org, He, Rong1 (AUTHOR) her@sj-hospital.org
Source: Orphanet Journal of Rare Diseases. 3/12/2025, Vol. 20 Issue 1, p1-10. 10p.
Database: Academic Search Ultimate
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An: 183623527
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  Label: Title
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  Data: Identification of ETFDH gene c. 487 + 2 T > A pathogenic variant and mechanisms for polycystic kidney in neonatal onset MADD.
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  Data: <searchLink fieldCode="AR" term="%22Zhang%2C+Bijun%22">Zhang, Bijun</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhang%2C+Dongyang%22">Zhang, Dongyang</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sun%2C+Feiyue%22">Sun, Feiyue</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Si%2C+Xinxin%22">Si, Xinxin</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Luan%2C+Meng%22">Luan, Meng</searchLink><relatesTo>3</relatesTo> (AUTHOR)<i> luanm@sj-hospital.org</i><br /><searchLink fieldCode="AR" term="%22He%2C+Rong%22">He, Rong</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> her@sj-hospital.org</i>
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  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 3/12/2025, Vol. 20 Issue 1, p1-10. 10p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=183623527
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1186/s13023-025-03640-4
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      – Code: eng
        Text: English
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      – TitleFull: Identification of ETFDH gene c. 487 + 2 T > A pathogenic variant and mechanisms for polycystic kidney in neonatal onset MADD.
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          Name:
            NameFull: Zhang, Bijun
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            NameFull: Zhang, Dongyang
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            NameFull: Sun, Feiyue
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            NameFull: Si, Xinxin
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            NameFull: Luan, Meng
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            NameFull: He, Rong
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            – D: 12
              M: 03
              Text: 3/12/2025
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              Y: 2025
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            – TitleFull: Orphanet Journal of Rare Diseases
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