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Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.

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Title: Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.
Authors: Guo Z; The Institute of Human Nutrition, College of Public Health, Qingdao University, Ning Xia Road 308, Qingdao, 266071, Shandong, China., Gong A; Neonatal Screening Center, Maternal and Child Health Hospital of Xiangyang, Xiangyang, China., Liu S; Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, China. liushiguo2002@126.com.; Department of Medical Genetics, The Affiliated Hospital of Qingdao University, Jiangsu Road 16, Qingdao, 266000, China. liushiguo2002@126.com., Liang H; The Institute of Human Nutrition, College of Public Health, Qingdao University, Ning Xia Road 308, Qingdao, 266071, Shandong, China. qdlianghui@126.com.
Source: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2023 May; Vol. 298 (3), pp. 603-614. Date of Electronic Publication: 2023 Mar 11.
Publication Type: Review; Journal Article
Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101093320 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1617-4623 (Electronic) Linking ISSN: 16174623 NLM ISO Abbreviation: Mol Genet Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
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AccessLevel: 2
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PubTypeId: academicJournal
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  Data: Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.
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  Data: <searchLink fieldCode="AU" term="%22Guo+Z%22">Guo Z</searchLink>; The Institute of Human Nutrition, College of Public Health, Qingdao University, Ning Xia Road 308, Qingdao, 266071, Shandong, China.<br /><searchLink fieldCode="AU" term="%22Gong+A%22">Gong A</searchLink>; Neonatal Screening Center, Maternal and Child Health Hospital of Xiangyang, Xiangyang, China.<br /><searchLink fieldCode="AU" term="%22Liu+S%22">Liu S</searchLink>; Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, China. liushiguo2002@126.com.; Department of Medical Genetics, The Affiliated Hospital of Qingdao University, Jiangsu Road 16, Qingdao, 266000, China. liushiguo2002@126.com.<br /><searchLink fieldCode="AU" term="%22Liang+H%22">Liang H</searchLink>; The Institute of Human Nutrition, College of Public Health, Qingdao University, Ning Xia Road 308, Qingdao, 266071, Shandong, China. qdlianghui@126.com.
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  Data: <searchLink fieldCode="JN" term="%22101093320%22">Molecular genetics and genomics : MGG</searchLink> [Mol Genet Genomics] 2023 May; Vol. 298 (3), pp. 603-614. <i>Date of Electronic Publication: </i>2023 Mar 11.
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  Data: Review; Journal Article
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer-Verlag%22">Springer-Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>101093320 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1617-4623 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216174623%22">16174623 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Genomics <i>Subsets: </i>MEDLINE
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RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1007/s00438-023-02002-8
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      – Code: eng
        Text: English
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      – TitleFull: Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.
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            NameFull: Guo Z
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            NameFull: Gong A
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            NameFull: Liu S
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            NameFull: Liang H
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            – D: 01
              M: 05
              Text: 2023 May
              Type: published
              Y: 2023
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              Value: 1617-4623
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              Value: 298
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              Value: 3
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            – TitleFull: Molecular genetics and genomics : MGG
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