Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening.

Asamoah, Alexander; Wei, Sainan; Jackson, Kelly E; Hersh, Joseph H; Levy, Harvey

Asamoah, Alexander; Wei, Sainan; Jackson, Kelly E; Hersh, Joseph H; Levy, Harvey.

Afiliação

Asamoah A; Norton Children's Medical Group, University of Louisville School of Medicine, Louisville, KY 40202, USA.
Wei S; Department of Pathology and Laboratory Medicine, University of Kentucky, Lexington, KY 40536, USA.
Jackson KE; Division of Laboratory Services, Kentucky Department for Public Health, Frankfort, KY 40601, USA.
Hersh JH; Norton Children's Medical Group, University of Louisville School of Medicine, Louisville, KY 40202, USA.
Levy H; Norton Children's Medical Group, University of Louisville School of Medicine, Louisville, KY 40202, USA.

Int J Neonatal Screen ; 7(3)2021 Jul 23.

Article em En | MEDLINE | ID: mdl-34449521

Palavras-chave

CBS gene; DBS; HCU; NGS; dried blood spot; homocysteine; homocystinuria; newborn screening; next generation sequencing

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Screening_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Screening_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article