Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis.

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Title: Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis.
Authors: Zheng, Zhenzhu1 (AUTHOR), Peng, Weilin1 (AUTHOR), Lin, Yiming1 (AUTHOR), Lin, Weihua1,2 (AUTHOR) weihualin2024@126.com, Wang, Gaoxiong3,4 (AUTHOR) wanggaoxiong2013@163.com
Source: Orphanet Journal of Rare Diseases. 9/30/2025, Vol. 20 Issue 1, p1-7. 7p.
Database: Academic Search Ultimate
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An: 188354197
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  Data: Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis.
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  Data: <searchLink fieldCode="AR" term="%22Zheng%2C+Zhenzhu%22">Zheng, Zhenzhu</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Peng%2C+Weilin%22">Peng, Weilin</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lin%2C+Yiming%22">Lin, Yiming</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lin%2C+Weihua%22">Lin, Weihua</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> weihualin2024@126.com</i><br /><searchLink fieldCode="AR" term="%22Wang%2C+Gaoxiong%22">Wang, Gaoxiong</searchLink><relatesTo>3,4</relatesTo> (AUTHOR)<i> wanggaoxiong2013@163.com</i>
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  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 9/30/2025, Vol. 20 Issue 1, p1-7. 7p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=188354197
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1186/s13023-025-03723-2
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      – Code: eng
        Text: English
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        PageCount: 7
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      – TitleFull: Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis.
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            NameFull: Zheng, Zhenzhu
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            NameFull: Peng, Weilin
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            NameFull: Lin, Yiming
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            NameFull: Lin, Weihua
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            NameFull: Wang, Gaoxiong
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            – D: 30
              M: 09
              Text: 9/30/2025
              Type: published
              Y: 2025
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              Value: 20
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