Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina.

Kucera, Katerina S; Boyea, Beth Lincoln; Migliore, Brooke; Potter, Sarah Nelson; Robles, Veronica R; Kutsa, Oksana; Cope, Heidi; Okoniewski, Katherine C; Wheeler, Anne; Rehder, Catherine W; Smith, Edward C; Peay, Holly L

Kucera, Katerina S; Boyea, Beth Lincoln; Migliore, Brooke; Potter, Sarah Nelson; Robles, Veronica R; Kutsa, Oksana; Cope, Heidi; Okoniewski, Katherine C; Wheeler, Anne; Rehder, Catherine W; Smith, Edward C; Peay, Holly L.

Afiliação

Kucera KS; RTI International, Research Triangle Park, Durham, NC. Electronic address: kkucera@rti.org.
Boyea BL; RTI International, Research Triangle Park, Durham, NC.
Migliore B; RTI International, Research Triangle Park, Durham, NC.
Potter SN; RTI International, Research Triangle Park, Durham, NC.
Robles VR; RTI International, Research Triangle Park, Durham, NC.
Kutsa O; RTI International, Research Triangle Park, Durham, NC.
Cope H; RTI International, Research Triangle Park, Durham, NC.
Okoniewski KC; RTI International, Research Triangle Park, Durham, NC.
Wheeler A; RTI International, Research Triangle Park, Durham, NC.
Rehder CW; Department of Pathology, Duke University, Durham, NC.
Smith EC; Department of Pediatrics, Duke University, Durham, NC.
Peay HL; RTI International, Research Triangle Park, Durham, NC.

Genet Med ; 26(1): 101009, 2024 Jan.

Article em En | MEDLINE | ID: mdl-37864479

Assuntos

Distrofia Muscular de Duchenne; Masculino; Humanos; Recém-Nascido; Distrofia Muscular de Duchenne/diagnóstico; Distrofia Muscular de Duchenne/epidemiologia; Distrofia Muscular de Duchenne/genética; Triagem Neonatal; Peso ao Nascer; North Carolina/epidemiologia; Estudos Prospectivos; Creatina Quinase

Palavras-chave

Creatine kinase-MM; DMD; Duchenne muscular dystrophy; Gene panel; Newborn screening

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular de Duchenne Limite: Humans / Male / Newborn País/Região como assunto: America do norte Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article

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