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Δ1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder.
Marco-Marín, Clara; Escamilla-Honrubia, Juan M; Llácer, José L; Seri, Marco; Panza, Emanuele; Rubio, Vicente.
Affiliation
  • Marco-Marín C; Instituto de Biomedicina de Valencia of the CSIC, Valencia, Spain.
  • Escamilla-Honrubia JM; Centro para Investigación Biomédica en Red sobre Enfermedades Raras CIBERER-ISCIII, Valencia, Spain.
  • Llácer JL; Instituto de Biomedicina de Valencia of the CSIC, Valencia, Spain.
  • Seri M; Centro para Investigación Biomédica en Red sobre Enfermedades Raras CIBERER-ISCIII, Valencia, Spain.
  • Panza E; Instituto de Biomedicina de Valencia of the CSIC, Valencia, Spain.
  • Rubio V; Centro para Investigación Biomédica en Red sobre Enfermedades Raras CIBERER-ISCIII, Valencia, Spain.
J Inherit Metab Dis ; 43(4): 657-670, 2020 07.
Article in En | MEDLINE | ID: mdl-32017139
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone and Bones / Cataract / Spastic Paraplegia, Hereditary / Aldehyde Dehydrogenase / Growth Disorders Limits: Humans Language: En Journal: J Inherit Metab Dis Year: 2020 Document type: Article Affiliation country: España
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone and Bones / Cataract / Spastic Paraplegia, Hereditary / Aldehyde Dehydrogenase / Growth Disorders Limits: Humans Language: En Journal: J Inherit Metab Dis Year: 2020 Document type: Article Affiliation country: España