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Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report.
Martino, Francesco; Magenta, Alessandra; Troccoli, Maria Letizia; Martino, Eliana; Torromeo, Concetta; Putotto, Carolina; Barillà, Francesco.
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  • Martino F; Department of Pediatrics Gynecology and Obstetrics, Sapienza University of Rome, Viale Regina Elena 324, 00161, Rome, Italy. francesco.martino@uniroma1.it.
  • Magenta A; National Research Council of Italy (CNR), Institute of Translational Pharmacology IFT, Via Fosso del Cavaliere 100, 00133, Rome, Italy.
  • Troccoli ML; Clinical Analysis and Biochemistry Laboratory, Sant'Andrea Hospital, Via di Grottarossa, 1035/1039, 00189, Rome, Italy.
  • Martino E; Department of Pediatrics Gynecology and Obstetrics, Sapienza University of Rome, Viale Regina Elena 324, 00161, Rome, Italy.
  • Torromeo C; Department of Cardiovascular, Respiratory, Nephrology, Anesthesiology and Geriatric Sciences, Sapienza University of Rome, Viale del Policlinico 155, 00161, Rome, Italy.
  • Putotto C; Department of Pediatrics Gynecology and Obstetrics, Sapienza University of Rome, Viale Regina Elena 324, 00161, Rome, Italy.
  • Barillà F; Department of Cardiovascular, Respiratory, Nephrology, Anesthesiology and Geriatric Sciences, Sapienza University of Rome, Viale del Policlinico 155, 00161, Rome, Italy.
Ital J Pediatr ; 47(1): 54, 2021 Mar 08.
Article en En | MEDLINE | ID: mdl-33685478
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Contexto en salud: 3_ND Problema de salud: 3_diarrhea Asunto principal: Deficiencia de Vitamina B 12 / Transcobalaminas / Hidroxocobalamina Tipo de estudio: Risk_factors_studies / Screening_studies Límite: Adult / Female / Humans Idioma: En Revista: Ital J Pediatr Asunto de la revista: PEDIATRIA Año: 2021 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Contexto en salud: 3_ND Problema de salud: 3_diarrhea Asunto principal: Deficiencia de Vitamina B 12 / Transcobalaminas / Hidroxocobalamina Tipo de estudio: Risk_factors_studies / Screening_studies Límite: Adult / Female / Humans Idioma: En Revista: Ital J Pediatr Asunto de la revista: PEDIATRIA Año: 2021 Tipo del documento: Article País de afiliación: Italia