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In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.
Cohen, Jennifer L; Chakraborty, Pranesh; Fung-Kee-Fung, Karen; Schwab, Marisa E; Bali, Deeksha; Young, Sarah P; Gelb, Michael H; Khaledi, Hamid; DiBattista, Alicia; Smallshaw, Stacey; Moretti, Felipe; Wong, Derek; Lacroix, Catherine; El Demellawy, Dina; Strickland, Kyle C; Lougheed, Jane; Moon-Grady, Anita; Lianoglou, Billie R; Harmatz, Paul; Kishnani, Priya S; MacKenzie, Tippi C.
Afiliação
  • Cohen JL; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • Chakraborty P; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • Fung-Kee-Fung K; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • Schwab ME; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • Bali D; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • Young SP; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • Gelb MH; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • Khaledi H; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • DiBattista A; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • Smallshaw S; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • Moretti F; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • Wong D; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • Lacroix C; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • El Demellawy D; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • Strickland KC; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • Lougheed J; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • Moon-Grady A; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • Lianoglou BR; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • Harmatz P; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • Kishnani PS; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
  • MacKenzie TC; From the Department of Pediatrics, Division of Medical Genetics (J.L.C., D.B., S.P.Y., P.S.K.), and the Department of Pathology (K.C.S.), Duke University, Durham, NC; the Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa (P.C., S.S., D.W., C.L., D.E.D., J.L.),
N Engl J Med ; 387(23): 2150-2158, 2022 12 08.
Article em En | MEDLINE | ID: mdl-36351280
Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM (cross-reactive immunologic material)-negative infantile-onset Pompe's disease. The family history was positive for infantile-onset Pompe's disease with cardiomyopathy in two previously affected deceased siblings. After receiving in utero ERT and standard postnatal therapy, the current patient had normal cardiac and age-appropriate motor function postnatally, was meeting developmental milestones, had normal biomarker levels, and was feeding and growing well at 13 months of age.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo II Limite: Humans / Infant Idioma: En Revista: N Engl J Med Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo II Limite: Humans / Infant Idioma: En Revista: N Engl J Med Ano de publicação: 2022 Tipo de documento: Article