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Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report.
De Simone, Luciano; Capirchio, Laura; Roperto, Rosa Maria; Romagnani, Paola; Sacchini, Michele; Donati, Maria Alice; de Martino, Maurizio.
Afiliación
  • De Simone L; Pediatric Cardiology Unit, Anna Meyer Children's University Hospital, Viale Pieraccini, 24, 50139, Florence, Italy. l.desimone@meyer.it.
  • Capirchio L; Post-Graduate School of Pediatrics, University of Florence, Anna Meyer Children's University Hospital, 50139, Florence, Italy.
  • Roperto RM; Nephrology and Dialysis Unit, Anna Meyer Children's University Hospital, 50139, Florence, Italy.
  • Romagnani P; Nephrology and Dialysis Unit, Anna Meyer Children's University Hospital, 50139, Florence, Italy.
  • Sacchini M; Metabolic and Muscular Unit, Neuroscience Department, Anna Meyer Children's University Hospital, 50139, Florence, Italy.
  • Donati MA; Metabolic and Muscular Unit, Neuroscience Department, Anna Meyer Children's University Hospital, 50139, Florence, Italy.
  • de Martino M; Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, 50139, Florence, Italy.
Ital J Pediatr ; 44(1): 90, 2018 Aug 13.
Article en En | MEDLINE | ID: mdl-30103768
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome Hemolítico Urémico Atípico / Errores Innatos del Metabolismo de los Aminoácidos / Homocistinuria / Hipertensión Pulmonar Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Ital J Pediatr Asunto de la revista: PEDIATRIA Año: 2018 Tipo del documento: Article País de afiliación: Italia
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome Hemolítico Urémico Atípico / Errores Innatos del Metabolismo de los Aminoácidos / Homocistinuria / Hipertensión Pulmonar Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Ital J Pediatr Asunto de la revista: PEDIATRIA Año: 2018 Tipo del documento: Article País de afiliación: Italia