Diagnosis of lysosomal storage disorders: Gaucher disease.

Johnson, Britt A; Dajnoki, Angela; Bodamer, Olaf

Johnson, Britt A; Dajnoki, Angela; Bodamer, Olaf.

Afiliação

Johnson BA; Division of Clinical and Translational Genetics, Dr. John T. MacDonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, Florida.
Dajnoki A; Division of Clinical and Translational Genetics, Dr. John T. MacDonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, Florida.
Bodamer O; Division of Clinical and Translational Genetics, Dr. John T. MacDonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, Florida.

Curr Protoc Hum Genet ; 82: 17.15.1-17.15.6, 2014 Jul 14.

Article em En | MEDLINE | ID: mdl-25042717

Assuntos

Doença de Gaucher/diagnóstico; Humanos; Recém-Nascido

Palavras-chave

GBA; Gaucher Disease; dried blood spot; glucocerebrosidase; lysosomal storage disorder; tandem mass spectrometry

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Gaucher Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: Curr Protoc Hum Genet Ano de publicação: 2014 Tipo de documento: Article

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