Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-a-d-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB

Autor: Whitley CB, Vijay S, Yao B, Pineda M, Parker GJM, Rojas-Caro S, Zhang X, Dai Y, Cinar A, Bubb G, Patki KC, Escolar ML

Publikováno v: MOLECULAR GENETICS AND METABOLISM
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

Mucopolysaccharidosis IIIB is caused by a marked decrease in N-acetyl-a-d-glucosaminidase (NAGLU) enzyme activity, which leads to the accumulation of heparan sulfate in key organs, progressive brain atrophy, and neurocognitive decline. In this open-l

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http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=15561

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A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation.

Autor: Escolar ML, Poe MD, Martin HR, Kurtzberg J

Publikováno v: Pediatrics; Sep2006, Vol. 118 Issue 3, pe879-89, 1p

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.

Autor: Adang LA; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: adangl@chop.edu., Groeschel S; University Children's Hospital, Hoppe-Seyler-Str.1, Tuebingen, DE 72070, USA. Electronic address: samuel.groeschel@med.uni-tuebingen.de., Grzyb C; University of Pittsburgh, Department of Pediatrics, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address: cgrzyb@pennstatehealth.psu.edu., D'Aiello R; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: daielloiir@chop.edu., Gavazzi F; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: gavazzif@chop.edu., Sherbini O; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: serbinio@chop.edu., Bronner N; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA; Uniformed Services University of Health Sciences, Bethesda, MD, USA., Patel A; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA; Penn State Health Milton S. Hershey Medical Center, Hershey, PA, USA., Vincent A; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: vincenta@chop.edu., Sevagamoorthy A; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: sevagamooa@chop.edu., Mutua S; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: mutuas@chop.edu., Muirhead K; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA., Schmidt J; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: schmidtj1@chop.edu., Pizzino A; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: pizzinoa@chop.edu., Yu E; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: Yue2@chop.edu., Jin D; University of Minnesota, Minneapolis, MN, USA. Electronic address: zhuxx003@umn.edu., Eichler F; Massachusetts General Hospital, Boston, MA, USA. Electronic address: feichler@partners.org., Fraser JL; Children's National Medical Center, Washington, DC 20010-2978, USA. Electronic address: JFraser@childrensnational.org., Emrick L; Baylor College of Medicine, Houston, TX 77030-3411, USA. Electronic address: emrick@bcm.edu., Van Haren K; Stanford University, Neurology, Stanford, CA, USA. Electronic address: kvh@stanford.edu., Boulanger JM; Charles-LeMoyne Hospital, Greenfield Park, QC, Canada. Electronic address: jean-martin.boulanger.med@ssss.gouv.qc.ca., Ruzhnikov M; Stanford University, Neurology, Stanford, CA, USA. Electronic address: ruzhnikov@stanford.edu., Sylvain M; Université Laval, Division of Pediatric Neurology, Centre Mère-Enfant Soleil, Quebec, QC, Canada., Nguyen CÉ; Centre Hospitalier Universitaire Sainte-Justine, Department of Neurosciences and Pediatrics, Division of Pediatric Neurology, Montreal, QC, Canada. Electronic address: cam-tu.emilie.nguyen.hsj@ssss.gouv.qc.ca., Potic A; University of Belgrade Faculty of Medicine, Department of Neurology, Clinic for Child Neurology and Psychiatry, Beograd, Republic of Serbia., Keller S; Children's Healthcare of Atlanta Scottish Rite Hospital, Atlanta, GA, USA. Electronic address: stephanie.keller@choa.org., Fatemi A; Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University, Baltimore, MD, USA. Electronic address: fatemi@kennedykrieger.org., Uebergang E; Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne, Department of Paediatrics, Melbourne, VIC, Australia. Electronic address: eloise.uebergang@mcri.edu.au., Poe M; University of Pittsburgh, Department of Pediatrics, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address: michele.poe@chp.edu., Yazdani PA; Research Institute of the McGill University Health Centre, Montreal, QC, Canada. Electronic address: pouneh.amir-yazdani.1@ulaval.ca., Bernat J; University of Iowa Hospitals and Clinics, Iowa City, IA, USA. Electronic address: john-bernat@uiowa.edu., Lindstrom K; BioMarin Pharmaceutical Inc, Novato, CA, USA; Phoenix Children's Hospital, Phoenix, AZ, USA., Bonkowsky JL; University of Utah School of Medicine, Division of Pediatric Neurology, Department of Pediatrics, 295 Chipeta Way, Williams Building, Salt Lake City, UT 84108, USA. Electronic address: joshua.bonkowsky@hsc.utah.edu., Bernard G; Montreal Children's Hospital, McGill University Health Center, Departments of Pediatrics, Neurology and Neurosurgery, 2300 Tupper, Room A-506, Montreal, QC H3H 1P3, Canada. Electronic address: genevieve.bernard@mcgill.ca., Stutterd CA; Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne, Department of Paediatrics, Melbourne, VIC, Australia. Electronic address: chloe.stutterd@vcgs.org.au., Orchard P; University of Minnesota, Minneapolis, MN, USA. Electronic address: orcha001@umn.edu., Gupta AO; University of Minnesota, Minneapolis, MN, USA. Electronic address: gupta461@umn.edu., Ljungberg M; Copenhagen University Hospital, Centre Inherited Metabolic Disease, Department of Pediatrics and Adolescent Medicine, Kobenhavn, Denmark. Electronic address: merete.ljungberg@regionh.dk., Groenborg S; Copenhagen University Hospital, Centre Inherited Metabolic Disease, Department of Pediatrics and Adolescent Medicine, Kobenhavn, Denmark. Electronic address: sabine.groenborg@regionh.dk., Zambon A; San Raffaele Scientific Institute, Division of Neuroscience, Milan, Italy. Electronic address: zambon.alberto@hsr.it., Locatelli S; San Raffaele Hospital, Paediatric Immunohematology and Unit of Neurology, Milano, Lombardia, Italy. Electronic address: locatelli.sara@hsr.it., Fumagalli F; Ospedale San Raffaele, Via Olgettina 60, Milano 20132, Italy. Electronic address: fumagalli.francesca@hsr.it., Elguen S; University Children's Hospital, Hoppe-Seyler-Str.1, Tuebingen, DE 72070, USA. Electronic address: Saskia.Elguen@med.uni-tuebingen.de., Kehrer C; University Children's Hospital, Hoppe-Seyler-Str.1, Tuebingen, DE 72070, USA. Electronic address: christiane.kehrer@med.uni-tuebingen.de., Krägeloh-Mann I; University Children's Hospital, Hoppe-Seyler-Str.1, Tuebingen, DE 72070, USA. Electronic address: ingeborg.kraegeloh-mann@med.uni-tuebingen.de., Shults J; The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: shultsj@chop.edu., Vanderver A; The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA. Electronic address: vandervera@chop.edu., Escolar ML; University of Pittsburgh, Department of Pediatrics, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address: mle26@pitt.edu.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Aug; Vol. 142 (4), pp. 108521. Date of Electronic Publication: 2024 Jun 29.