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Identification of MMACHC and PROKR2 mutations causing coexistent cobalamin C disease and Kallmann syndrome in a young woman.
Yuan, Haijun; Deng, Sipeng; Gao, Wei; Li, Huaxin; Yuan, Mei.
Affiliation
  • Yuan H; Department of Emergence, the Second Hospital, University of South China, Hengyang, Hunan, China.
  • Deng S; Department of Emergence, Foresea Life Insurance Guangxi Hospital, Nanning, Guangxi, China.
  • Gao W; Institute of Neurology, the Second Hospital, University of South China, Hengyang, Hunan, China.
  • Li H; Institute of Neurology, the Second Hospital, University of South China, Hengyang, Hunan, China.
  • Yuan M; Institute of Neurology, the Second Hospital, University of South China, Hengyang, Hunan, China.
Metab Brain Dis ; 36(3): 447-452, 2021 03.
Article in En | MEDLINE | ID: mdl-33411215
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Oxidoreductases / Vitamin B 12 / Kallmann Syndrome / Receptors, Peptide / Receptors, G-Protein-Coupled / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: Metab Brain Dis Journal subject: CEREBRO / METABOLISMO Year: 2021 Type: Article Affiliation country: China
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Oxidoreductases / Vitamin B 12 / Kallmann Syndrome / Receptors, Peptide / Receptors, G-Protein-Coupled / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: Metab Brain Dis Journal subject: CEREBRO / METABOLISMO Year: 2021 Type: Article Affiliation country: China