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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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-26658511

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degeneração Retiniana / Células Ganglionares da Retina / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Diagnostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degeneração Retiniana / Células Ganglionares da Retina / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Diagnostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article