Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.

Rairikar, Mugdha V; Case, Laura E; Bailey, Lauren A; Kazi, Zoheb B; Desai, Ankit K; Berrier, Kathryn L; Coats, Julie; Gandy, Rachel; Quinones, Rebecca; Kishnani, Priya S

Rairikar, Mugdha V; Case, Laura E; Bailey, Lauren A; Kazi, Zoheb B; Desai, Ankit K; Berrier, Kathryn L; Coats, Julie; Gandy, Rachel; Quinones, Rebecca; Kishnani, Priya S.

Afiliação

Rairikar MV; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Case LE; Department of Orthopedics, Duke University School of Medicine, Durham, NC, USA.
Bailey LA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Kazi ZB; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Desai AK; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Berrier KL; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Coats J; Department of Physical Therapy and Occupational Therapy, Duke Health, Durham, NC, USA.
Gandy R; Department of Physical Therapy and Occupational Therapy, Duke Health, Durham, NC, USA.
Quinones R; Department of Physical Therapy and Occupational Therapy, Duke Health, Durham, NC, USA.
Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address: priya.kishnani@duke.edu.

Mol Genet Metab ; 122(3): 99-107, 2017 11.

Article em En | MEDLINE | ID: mdl-28951071

Assuntos

Glucana 1,4-alfa-Glucosidase/genética; Doença de Depósito de Glicogênio Tipo II/diagnóstico; Doença de Depósito de Glicogênio Tipo II/genética; Fenótipo; Algoritmos; Pré-Escolar; Estudos de Coortes; Diagnóstico Precoce; Terapia de Reposição de Enzimas; Feminino; Variação Genética; Doença de Depósito de Glicogênio Tipo II/terapia; Heterozigoto; Homozigoto; Humanos; Lactente; Recém-Nascido; Masculino; Mutação; Triagem Neonatal/métodos

Palavras-chave

Enzyme replacement therapy; Glycogen storage disease type II; IVS variant; Late onset Pompe disease; Newborn screening; c.-32-13T>G

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Doença de Depósito de Glicogênio Tipo II / Glucana 1,4-alfa-Glucosidase Tipo de estudo: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos

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