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Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.
Bonafede, Lucas; Ficicioglu, Can H; Serrano, Leona; Han, Grace; Morgan, Jessica I W; Mills, Monte D; Forbes, Brian J; Davidson, Stefanie L; Binenbaum, Gil; Kaplan, Paige B; Nichols, Charles W; Verloo, Patrick; Leroy, Bart P; Maguire, Albert M; Aleman, Tomas S.
Afiliación
  • Bonafede L; Scheie Eye Institute and the Perelman Center for Advanced Medicine, Department of Ophthamology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.
  • Ficicioglu CH; Department of Pediatrics, Section of Biochemical Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.
  • Serrano L; Scheie Eye Institute and the Perelman Center for Advanced Medicine, Department of Ophthamology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.
  • Han G; Scheie Eye Institute and the Perelman Center for Advanced Medicine, Department of Ophthamology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.
  • Morgan JI; Scheie Eye Institute and the Perelman Center for Advanced Medicine, Department of Ophthamology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.
  • Mills MD; Division of Ophthalmology, The Children's Hospital of Philadelphia, Department of Ophthalmology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.
  • Forbes BJ; Division of Ophthalmology, The Children's Hospital of Philadelphia, Department of Ophthalmology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.
  • Davidson SL; Division of Ophthalmology, The Children's Hospital of Philadelphia, Department of Ophthalmology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.
  • Binenbaum G; Division of Ophthalmology, The Children's Hospital of Philadelphia, Department of Ophthalmology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.
  • Kaplan PB; Department of Pediatrics, Section of Biochemical Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.
  • Nichols CW; Scheie Eye Institute and the Perelman Center for Advanced Medicine, Department of Ophthamology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.
  • Verloo P; Department of Pediatrics, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Leroy BP; Division of Ophthalmology, The Children's Hospital of Philadelphia, Department of Ophthalmology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States 5Department of Ophthalmology, Ghent University and Gh.
  • Maguire AM; Scheie Eye Institute and the Perelman Center for Advanced Medicine, Department of Ophthamology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States 3Division of Ophthalmology, The Children's Hospital of.
  • Aleman TS; Scheie Eye Institute and the Perelman Center for Advanced Medicine, Department of Ophthamology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States 3Division of Ophthalmology, The Children's Hospital of.
Invest Ophthalmol Vis Sci ; 56(13): 7875-87, 2015 Dec.
Article en En | MEDLINE | ID: mdl-26658511

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Degeneración Retiniana / Células Ganglionares de la Retina / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Diagnostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Invest Ophthalmol Vis Sci Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Degeneración Retiniana / Células Ganglionares de la Retina / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Diagnostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Invest Ophthalmol Vis Sci Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos