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. |
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| 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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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 188354197 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis. – Name: Author Label: Authors Group: Au 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> – Name: TitleSource Label: Source Group: Src 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: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-025-03723-2 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 7 StartPage: 1 Titles: – TitleFull: Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Zheng, Zhenzhu – PersonEntity: Name: NameFull: Peng, Weilin – PersonEntity: Name: NameFull: Lin, Yiming – PersonEntity: Name: NameFull: Lin, Weihua – PersonEntity: Name: NameFull: Wang, Gaoxiong IsPartOfRelationships: – BibEntity: Dates: – D: 30 M: 09 Text: 9/30/2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 17501172 Numbering: – Type: volume Value: 20 – Type: issue Value: 1 Titles: – TitleFull: Orphanet Journal of Rare Diseases Type: main |
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