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Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.
Yang, Jinling; Yuan, Dejian; Tan, Xiaohui; Zeng, Yexi; Tang, Ning; Chen, Dayu; Tan, Jianqiang; Cai, Ren; Huang, Jun; Yan, Tizhen.
Affiliation
  • Yang J; Newborn Screening Center, Department of Medical Genetics, Key Laboratory of Prevention and Control of Birth Defects, Liuzhou Maternity and Child Health Care Hospital, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, Guangxi 54
  • Yuan D; Newborn Screening Center, Department of Medical Genetics, Key Laboratory of Prevention and Control of Birth Defects, Liuzhou Maternity and Child Health Care Hospital, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, Guangxi 54
  • Tan X; School of Forensic Medicine, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China.
  • Zeng Y; Newborn Screening Center, Huizhou Second Maternity and Child Health Care Hospital, Huizhou, Guangdong 516001, P.R. China.
  • Tang N; Newborn Screening Center, Department of Medical Genetics, Key Laboratory of Prevention and Control of Birth Defects, Liuzhou Maternity and Child Health Care Hospital, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, Guangxi 54
  • Chen D; Newborn Screening Center, Department of Medical Genetics, Key Laboratory of Prevention and Control of Birth Defects, Liuzhou Maternity and Child Health Care Hospital, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, Guangxi 54
  • Tan J; Newborn Screening Center, Department of Medical Genetics, Key Laboratory of Prevention and Control of Birth Defects, Liuzhou Maternity and Child Health Care Hospital, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, Guangxi 54
  • Cai R; Newborn Screening Center, Department of Medical Genetics, Key Laboratory of Prevention and Control of Birth Defects, Liuzhou Maternity and Child Health Care Hospital, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, Guangxi 54
  • Huang J; Newborn Screening Center, Department of Medical Genetics, Key Laboratory of Prevention and Control of Birth Defects, Liuzhou Maternity and Child Health Care Hospital, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, Guangxi 54
  • Yan T; Newborn Screening Center, Department of Medical Genetics, Key Laboratory of Prevention and Control of Birth Defects, Liuzhou Maternity and Child Health Care Hospital, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, Guangxi 54
Mol Med Rep ; 25(2)2022 Feb.
Article in En | MEDLINE | ID: mdl-34878152
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rhabdomyolysis / Mitochondrial Myopathies / Mitochondrial Trifunctional Protein / Mitochondrial Trifunctional Protein, alpha Subunit / Lipid Metabolism, Inborn Errors / Multienzyme Complexes / Cardiomyopathies / Nervous System Diseases Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans / Infant / Male Language: En Journal: Mol Med Rep Year: 2022 Type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rhabdomyolysis / Mitochondrial Myopathies / Mitochondrial Trifunctional Protein / Mitochondrial Trifunctional Protein, alpha Subunit / Lipid Metabolism, Inborn Errors / Multienzyme Complexes / Cardiomyopathies / Nervous System Diseases Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans / Infant / Male Language: En Journal: Mol Med Rep Year: 2022 Type: Article