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Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.
Beltran-Quintero, Maria L; Bascou, Nicholas A; Poe, Michele D; Wenger, David A; Saavedra-Matiz, Carlos A; Nichols, Matthew J; Escolar, Maria L.
Afiliação
  • Beltran-Quintero ML; Program for the Study of Neurodevelopment in Rare Disorders and Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA, 15144, USA.
  • Bascou NA; Program for the Study of Neurodevelopment in Rare Disorders and Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA, 15144, USA.
  • Poe MD; Program for the Study of Neurodevelopment in Rare Disorders and Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA, 15144, USA.
  • Wenger DA; Sidney Kimmel Medical College, 1020 Locust St, Room 346, Philadelphia, PA, 19107, USA.
  • Saavedra-Matiz CA; Division of Genetics, Newborn Screening program, Wadsworth Center, New York State Department of Health, Albany, NY, USA.
  • Nichols MJ; Division of Genetics, Newborn Screening program, Wadsworth Center, New York State Department of Health, Albany, NY, USA.
  • Escolar ML; Program for the Study of Neurodevelopment in Rare Disorders and Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA, 15144, USA. Maria.Escolar@chp.edu.
Orphanet J Rare Dis ; 14(1): 46, 2019 02 18.
Article em En | MEDLINE | ID: mdl-30777126
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Leucodistrofia de Células Globoides Tipo de estudo: Diagnostic_studies / Observational_studies Limite: Child / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Leucodistrofia de Células Globoides Tipo de estudo: Diagnostic_studies / Observational_studies Limite: Child / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2019 Tipo de documento: Article