Are we missing patients with biotinidase deficiency in France?

Deschamps, R; Stankoff, B; Vignal, C; Benoist, J F; Wolf, B; Gout, O

Deschamps, R; Stankoff, B; Vignal, C; Benoist, J F; Wolf, B; Gout, O.

Afiliação

Deschamps R; Department of Neurology, Fondation Ophtalmologique Adolphe-de-Rothschild, Paris, France. Electronic address: rdeschamps@for.paris.
Stankoff B; Department of Neurology, Saint-Antoine University Hospital, Paris, France; Sorbonne Universities, UPMC University Paris 06, Paris, France; UMR S 1127, CNRS UMR 7225, ICM, 75013 Paris, France.
Vignal C; Department of Neuro-Ophthalmolology, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.
Benoist JF; Department of Hormonology and Biochemistry, Robert Debré Hospital, AP-HP, Université Paris-Sud, Paris, France.
Wolf B; Department of Research Administration, Henry Ford Hospital, Detroit, USA; Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, USA.
Gout O; Department of Neurology, Fondation Ophtalmologique Adolphe-de-Rothschild, Paris, France.

Rev Neurol (Paris) ; 174(5): 273-274, 2018 May.

Article em En | MEDLINE | ID: mdl-29778138

Assuntos

Deficiência de Biotinidase/diagnóstico; Adulto; Deficiência de Biotinidase/epidemiologia; Deficiência de Biotinidase/genética; Criança; França/epidemiologia; Humanos; Recém-Nascido; Doenças do Nervo Óptico/etiologia; Doenças do Nervo Óptico/terapia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência de Biotinidase Tipo de estudo: Etiology_studies Limite: Adult / Child / Humans / Newborn País/Região como assunto: Europa Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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