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Mutación del gen MMADHC de la cobalamina D con comienzo en el adulto: a propósito de 2 casos potencialmente tratables / Mutation of the MMADHC gene in adult-onset cobalamin D deficiency: A report of 2 potentially treatable cases
Cancho García, E; Geán, E; Oliver Tormo, B; Torrents, A; Esteban Durán, E.
Affiliation
  • Cancho García, E; Hospital Don Benito-Villanueva de la Serena. Neurologist. Don Benito. España
  • Geán, E; Clinical genetics specialist consultant. Reference Laboratory Genetics. L'Hospitalet de Llobregat. España
  • Oliver Tormo, B; s.af
  • Torrents, A; s.af
  • Esteban Durán, E; Complejo Hospitalario Infanta Cristina. Radiologist. Badajoz. España
Neurología (Barc., Ed. impr.) ; 34(6): 419-421, jul.-ago. 2019. ilus
Article in Spanish | IBECS | ID: ibc-185460
Responsible library: ES1.1
Localization: BNCS
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Full text: Available Collection: National databases / Spain Database: IBECS Main subject: Intracellular Signaling Peptides and Proteins / Amino Acid Metabolism, Inborn Errors / Mutation Limits: Adolescent / Female / Humans Language: Spanish Journal: Neurología (Barc., Ed. impr.) Year: 2019 Document type: Article Institution/Affiliation country: Clinical genetics specialist consultant/España / Complejo Hospitalario Infanta Cristina/España / Hospital Don Benito-Villanueva de la Serena/España
Fulltext
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Full text: Available Collection: National databases / Spain Database: IBECS Main subject: Intracellular Signaling Peptides and Proteins / Amino Acid Metabolism, Inborn Errors / Mutation Limits: Adolescent / Female / Humans Language: Spanish Journal: Neurología (Barc., Ed. impr.) Year: 2019 Document type: Article Institution/Affiliation country: Clinical genetics specialist consultant/España / Complejo Hospitalario Infanta Cristina/España / Hospital Don Benito-Villanueva de la Serena/España