Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair.

Grant, Nathan; Sohn, Young Bae; Ellinwood, N Matthew; Okenfuss, Ericka; Mendelsohn, Bryce A; Lynch, Leslie E; Braunlin, Elizabeth A; Harmatz, Paul R; Eisengart, Julie B

Grant, Nathan; Sohn, Young Bae; Ellinwood, N Matthew; Okenfuss, Ericka; Mendelsohn, Bryce A; Lynch, Leslie E; Braunlin, Elizabeth A; Harmatz, Paul R; Eisengart, Julie B.

Afiliación

Grant N; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Sohn YB; Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Republic of Korea.
Ellinwood NM; National MPS Society, Durham, NC, USA.
Okenfuss E; Kaiser Permanente, Oakland, CA, USA.
Mendelsohn BA; Kaiser Permanente, Oakland, CA, USA.
Lynch LE; UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
Braunlin EA; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Harmatz PR; UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
Eisengart JB; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.

Mol Genet Metab Rep ; 30: 100845, 2022 Mar.

Article en En | MEDLINE | ID: mdl-35242576

Palabras clave

ABR, Auditory brainstem response; CNS, central nervous system;; DAS-II, Differential Ability Scales, Second Edition;; ERT, enzyme replacement therapy;; Early intervention; Enzyme replacement therapy; GAG, glycosaminoglycan;; HCT, hematopoietic cell transplantation;; Hunter syndrome; IDS, iduronate-2-sulphatase;; IT, intrathecal;; MPS II, mucopolysaccharidosis type II, Hunter syndrome;; MPS, mucopolysaccharidosis;; MRI, magnetic resonance imaging;; Mucopolysaccharidosis type II; NBS, newborn screening;; Newborn screening; RUSP, Recommended Uniform Screening Panel; Sibling study

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies / Screening_studies Aspecto: Patient_preference Idioma: En Revista: Mol Genet Metab Rep Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

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