Joseph Muenzer

Joseph Muenzer

UNVERIFIED PROFILE

Are you Joseph Muenzer?   Register this Author

Register author
Joseph Muenzer

Joseph Muenzer

Publications by authors named "Joseph Muenzer"

Are you Joseph Muenzer?   Register this Author

55Publications

1463Reads

11Profile Views

Targeting Root Cause by Systemic scAAV9-h Gene Delivery: Functional Correction and Reversal of Severe MPS II in Mice.

Mol Ther Methods Clin Dev 2018 Sep 4;10:327-340. Epub 2018 Sep 4.

Division of Genetics and Metabolism, Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.omtm.2018.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125796PMC
September 2018

Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study.

Dev Med Child Neurol 2017 12 11;59(12):1269-1275. Epub 2017 Sep 11.

Department of Orthopedics, University of Utah, Salt Lake City, UT, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.13545DOI Listing
December 2017

Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.

Ophthalmic Genet 2017 Jan-Feb;38(1):91-94. Epub 2016 Apr 4.

b Department of Pediatrics, Division of Genetics and Metabolism , University of North Carolina School of Medicine , Chapel Hill , NC , USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/13816810.2016.1143017DOI Listing
November 2017

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.

Am J Med Genet A 2017 Oct 27;173(10):2720-2724. Epub 2017 Jul 27.

Department of Pediatrics, Division of Genetics and Metabolism, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38351DOI Listing
October 2017

Progression of Polysomnographic Abnormalities in Mucolipidosis II (I-Cell Disease).

J Clin Sleep Med 2016 12 15;12(12):1695-1696. Epub 2016 Dec 15.

Department of Neurology, Division of Sleep Medicine, University of North Carolina at Chapel Hill.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5664/jcsm.6362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155191PMC
December 2016

High-Pressure Transvenous Perfusion of the Upper Extremity in Human Muscular Dystrophy: A Safety Study with 0.9% Saline.

Hum Gene Ther 2015 Sep 30;26(9):614-21. Epub 2015 Jul 30.

1 Department of Neurology, University of North Carolina at Chapel Hill , Chapel Hill, North Carolina.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/hum.2015.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4575535PMC
September 2015

The natural history of MPS I: global perspectives from the MPS I Registry.

Genet Med 2014 Oct 27;16(10):759-65. Epub 2014 Mar 27.

Genzyme, a Sanofi company, Cambridge, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2014.25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189384PMC
October 2014

Early initiation of enzyme replacement therapy for the mucopolysaccharidoses.

Authors:
Joseph Muenzer

Mol Genet Metab 2014 Feb 11;111(2):63-72. Epub 2013 Dec 11.

Division of Genetics and Metabolism, Department of Pediatrics, CB 7487, Medical School Wing E Room 117, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7487, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2013.11.015DOI Listing
February 2014

Patient-specific biomechanical modeling of ventricular enlargement in hydrocephalus from longitudinal magnetic resonance imaging.

Med Image Comput Comput Assist Interv 2013 ;16(Pt 3):291-8

Biomedical Research Imaging Center, University of North Carolina at Chapel Hill, NC, 27599, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-3-642-40760-4_37DOI Listing
February 2014

Bronchoscopy and airway management in patients with mucopolysaccharidoses (MPS).

Pediatr Pulmonol 2013 Jun 4;48(6):601-7. Epub 2012 Sep 4.

Division of Pulmonology, Department of Pediatrics, University of North Carolina, Chapel Hill, North Carolina 27599-7217, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.22629DOI Listing
June 2013

Relationship of sleep to pulmonary function in mucopolysaccharidosis II.

J Pediatr 2013 Jun 8;162(6):1210-5. Epub 2013 Jan 8.

Division of Pulmonology, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7217, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2012.11.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3665636PMC
June 2013

Evaluation of disease severity in mucopolysaccharidoses.

J Pediatr Rehabil Med 2010 ;3(1):39-46

Children's Hospital, University of Mainz, Mainz, Germany.

View Article

Download full-text PDF

Source
http://www.medra.org/servlet/aliasResolver?alias=iospress&am
Publisher Site
http://dx.doi.org/10.3233/PRM-2010-0100DOI Listing
October 2012

Idiopathic gingival hyperplasia: a case report with a 17-year followup.

Case Rep Dent 2011 3;2011:986237. Epub 2011 Jul 3.

Department of Pediatric Dentistry, CB 7450, School of Dentistry, University of North Carolina, Chapel Hill, NC 27599-7450, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2011/986237DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335718PMC
August 2012

Safety and feasibility of high-pressure transvenous limb perfusion with 0.9% saline in human muscular dystrophy.

Mol Ther 2012 Feb 19;20(2):456-61. Epub 2011 Jul 19.

Department of Neurology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S15250016163049
Publisher Site
http://dx.doi.org/10.1038/mt.2011.137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3278558PMC
February 2012

Overview of the mucopolysaccharidoses.

Authors:
Joseph Muenzer

Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v4-12

Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/rheumatology/ker394DOI Listing
December 2011

Respiratory manifestations in mucopolysaccharidoses.

Paediatr Respir Rev 2011 Jun 26;12(2):133-8. Epub 2010 Nov 26.

Department of Pediatrics, Pulmonology, University of North Carolina at Chapel Hill, NC, USA.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S15260542100009
Publisher Site
http://dx.doi.org/10.1016/j.prrv.2010.10.005DOI Listing
June 2011

Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey.

Genet Med 2011 Feb;13(2):102-9

Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/GIM.0b013e318206786fDOI Listing
February 2011

Multidisciplinary management of Hunter syndrome.

Pediatrics 2009 Dec 9;124(6):e1228-39. Epub 2009 Nov 9.

Department of Pediatrics, University of North Carolina, Chapel Hill, North Carolina 27599-7487, USA.

View Article

Download full-text PDF

Source
http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
Publisher Site
http://dx.doi.org/10.1542/peds.2008-0999DOI Listing
December 2009

Mucopolysaccharidosis I: management and treatment guidelines.

Pediatrics 2009 Jan;123(1):19-29

Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA.

View Article

Download full-text PDF

Source
http://pediatrics.aappublications.org/content/123/1/19.full-
Web Search
http://dx.doi.org/10.1542/peds.2008-0416DOI Listing
January 2009

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.

Pediatrics 2009 Jan;123(1):229-40

University of British Columbia, Department of Medical Genetics, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2007-3847DOI Listing
January 2009

Initial report from the Hunter Outcome Survey.

Genet Med 2008 Jul;10(7):508-16

From the 1Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097GIM.0b013e31817701e6DOI Listing
July 2008

Hunter syndrome: to treat or not to treat.

Acta Paediatr 2008 Apr;97(457):55-6

Division of Genetics and Metabolism, Department of Pediatrics, School of Medicine, University of North Carolina, Chapel Hill, North Carolina, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/j.1651-2227.2008.00644.x
Publisher Site
http://dx.doi.org/10.1111/j.1651-2227.2008.00644.xDOI Listing
April 2008

Preclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS II.

Mol Genet Metab 2007 Jun 24;91(2):183-90. Epub 2007 Apr 24.

Shire Human Genetic Therapies, Inc., Preclinical Research, 700 Main Street, Cambridge, MA 02039, USA.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S109671920700101
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2007.03.003DOI Listing
June 2007

A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome).

Mol Genet Metab 2007 Mar 20;90(3):329-37. Epub 2006 Dec 20.

University of North Carolina, Department of Pediatrics, CB # 7487, Chapel Hill, NC 27599-7487, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2006.09.001DOI Listing
March 2007

Longitudinal neurocognitive outcome in an adolescent with Hurler-Scheie syndrome.

Neuropsychiatr Dis Treat 2006 Sep;2(3):381-6

The University of Mississippi Medical Center, Departments of Psychiatry.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2671818PMC
http://dx.doi.org/10.2147/nedt.2006.2.3.381DOI Listing
September 2006

Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina.

Mol Genet Metab 2006 May 8;88(1):90-2. Epub 2006 Feb 8.

Department of Pediatrics, University of North Carolina, Chapel Hill, NC 27599, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2005.12.008DOI Listing
May 2006

Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts.

J Gene Med 2005 Nov;7(11):1482-91

Gene Therapy Laboratory, Centre for Rare Diseases and Department of Pediatrics, University of Padova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jgm.790DOI Listing
November 2005

Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation.

Neuroradiology 2004 Aug 17;46(8):666-72. Epub 2004 Jun 17.

Department of Radiology, University of North Carolina School of Medicine, Chapel Hill, NC 27599-7510, USA.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00234-004-1215-1
Publisher Site
http://dx.doi.org/10.1007/s00234-004-1215-1DOI Listing
August 2004

The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations.

Authors:
Joseph Muenzer

J Pediatr 2004 May;144(5 Suppl):S27-34

Department of Pediatrics, University of North Carolina, Chapel Hill, North Carolina 27599-7487, USA.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S002234760400097
Publisher Site
http://dx.doi.org/10.1016/j.jpeds.2004.01.052DOI Listing
May 2004

Advances in the treatment of mucopolysaccharidosis type I.

N Engl J Med 2004 May;350(19):1932-4

Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMp048084DOI Listing
May 2004

Self-complementary adeno-associated virus serotype 2 vector: global distribution and broad dispersion of AAV-mediated transgene expression in mouse brain.

Mol Ther 2003 Dec;8(6):911-7

Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymthe.2003.08.021DOI Listing
December 2003

Adult-Onset Presentation of Glutaric Acidemia Type II With Myopathy.

J Clin Neuromuscul Dis 2003 Mar;4(3):124-8

From the Departments of *Neurology and daggerPediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; and the double daggerDepartment of Pediatrics, the University of Colorado School of Medicine, Denver, Colorado.

View Article

Download full-text PDF

Source
March 2003

Neurological correction of lysosomal storage in a mucopolysaccharidosis IIIB mouse model by adeno-associated virus-mediated gene delivery.

Mol Ther 2002 Jan;5(1):42-9

Division of Genetics and Metabolism, Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S152500160190514
Publisher Site
http://dx.doi.org/10.1006/mthe.2001.0514DOI Listing
January 2002