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Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing.
Zhuang, Dan-Yan; Ding, Shu-Xia; Wang, Fei; Yang, Xiang-Chun; Pan, Xiao-Li; Bao, You-Wei; Zhou, Li-Ming; Li, Hai-Bo.
Affiliation
  • Zhuang DY; The Central Laboratory of Birth Defects Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, China.
  • Ding SX; Department of Endocrinology and Genetic Metabolism of Pediatrics, Ningbo Women and Children's Hospital, Ningbo, China.
  • Wang F; The Central Laboratory of Birth Defects Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, China.
  • Yang XC; The Central Laboratory of Birth Defects Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, China.
  • Pan XL; The Central Laboratory of Birth Defects Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, China.
  • Bao YW; The Central Laboratory of Birth Defects Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, China.
  • Zhou LM; Reproductive Medicine Centre, Ningbo Women and Children's Hospital, Ningbo, China.
  • Li HB; The Central Laboratory of Birth Defects Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, China.
Front Genet ; 12: 791869, 2021.
Article de En | MEDLINE | ID: mdl-35154245
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Type d'étude: Diagnostic_studies / Prognostic_studies Langue: En Journal: Front Genet Année: 2021 Type de document: Article Pays d'affiliation: Chine Pays de publication: Suisse
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Type d'étude: Diagnostic_studies / Prognostic_studies Langue: En Journal: Front Genet Année: 2021 Type de document: Article Pays d'affiliation: Chine Pays de publication: Suisse