Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.

Ferreira, Carlos R; Devaney, Joseph M; Hofherr, Sean E; Pollard, Laura M; Cusmano-Ozog, Kristina

Ferreira, Carlos R; Devaney, Joseph M; Hofherr, Sean E; Pollard, Laura M; Cusmano-Ozog, Kristina.

Afiliación

Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Devaney JM; Division of Genetics and Metabolism, Children's National Health System, Washington, District Of Columbia.
Hofherr SE; Division of Laboratory Medicine, Children's National Health System, Washington, District Of Columbia.
Pollard LM; Division of Laboratory Medicine, Children's National Health System, Washington, District Of Columbia.
Cusmano-Ozog K; Biochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina.

Am J Med Genet A ; 173(2): 501-509, 2017 Feb.

Article en En | MEDLINE | ID: mdl-27797444

Asunto(s)

Intolerancia a la Fructosa/diagnóstico; Mucolipidosis/diagnóstico; Biomarcadores/sangre; Diagnóstico Diferencial; Activación Enzimática; Femenino; Intolerancia a la Fructosa/sangre; Intolerancia a la Fructosa/genética; Humanos; Lactante; Leucocitos/enzimología; Lisosomas/enzimología; Mucolipidosis/sangre; Mucolipidosis/genética; Fenotipo

Palabras clave

hereditary fructose intolerance; lysosomal enzyme activity; mucolipidosis; transferrin isoelectric focusing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Intolerancia a la Fructosa / Mucolipidosis Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Female / Humans / Infant Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article

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