White vitreous opacities in five patients with Gaucher disease type 3.

Seehra, Gurpreet K; Eghbali, Areian; Sidransky, Ellen; FitzGibbon, Edmond

Seehra, Gurpreet K; Eghbali, Areian; Sidransky, Ellen; FitzGibbon, Edmond.

Afiliação

Seehra GK; Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Eghbali A; Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Sidransky E; Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
FitzGibbon E; National Eye Institute, Mark O. Hatfield Clinical Research Center, NIH, DHHS, Bethesda, Maryland.

Am J Med Genet A ; 182(4): 808-812, 2020 04.

Article em En | MEDLINE | ID: mdl-31898869

Assuntos

Doença de Gaucher/patologia; Glucosilceramidase/genética; Adolescente; Adulto; Criança; Pré-Escolar; Terapia de Reposição de Enzimas; Feminino; Doença de Gaucher/enzimologia; Doença de Gaucher/genética; Doença de Gaucher/terapia; Humanos; Lactente; Masculino; Prognóstico; Adulto Jovem

Palavras-chave

Gaucher disease type 3; neurology; ophthalmology; skeletal abnormalities; visual acuity; vitreous opacities

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Gaucher / Glucosilceramidase Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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