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Overview of the mucopolysaccharidoses

Rheumatology (Oxford, England), 2011-12, Vol.50 (suppl_5), p.v4-v12

Muenzer, Joseph

2011

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The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome

Molecular genetics and metabolism reports, 2020-03, Vol.22, p.100549-100549, Article 100549

2020

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Mannitol-facilitated CNS entry of rAAV2 vector significantly delayed the neurological disease progression in MPS IIIB mice

Gene therapy, 2009-11, Vol.16 (11), p.1340-1352

2009

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The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005

Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.76-85

2006

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Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice

Gene therapy, 2007-07, Vol.14 (14), p.1065-1077

2007

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characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome)

Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.924-934

2007

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

The Journal of pediatrics, 2004-05, Vol.144 (5), p.S27-S34

Muenzer, Joseph

2004

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Response to: Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome

Molecular genetics and metabolism reports, 2020-03, Vol.22, p.100570-100570, Article 100570

2020

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Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II

American journal of neuroradiology : AJNR, 2010-08, Vol.31 (7), p.1319-1323

2010

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Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report

Acta Paediatrica, 2002-11, Vol.91 (s439), p.98-99

2002

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High Dose Vancomycin Loading Versus Low Dose is Associated With Decreased Nephrotoxicity In Emergency Department Sepsis Patients

Value in health, 2015-05, Vol.18 (3), p.A229-A229

2015

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PSY33 Item Reduction and Assessment of Measurement Properties of the Hunter Syndrome – Functional Outcomes for Clinical Understanding Scale (HS-FOCUS)

Value in health, 2012-11, Vol.15 (7), p.A514-A514

2012

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Initial report from the Hunter Outcome Survey

Genetics in medicine, 2008-07, Vol.10 (7), p.508-516

2008

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Evaluation of 3‐methylcrotonyl‐CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening

Journal of inherited metabolic disease, 2003-07, Vol.26 (1), p.25-35

2003

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Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

Genetics in medicine, 2011-02, Vol.13 (2), p.95-101

2011

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Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)

The Journal of pediatrics, 2004-05, Vol.144 (5), p.581-588

2004

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Advances in the Treatment of Mucopolysaccharidosis Type I

The New England journal of medicine, 2004-05, Vol.350 (19), p.1932-1934

2004

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

Molecular therapy, 2003-12, Vol.8 (6), p.911-917

2003

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Enzyme-Replacement Therapy in Mucopolysaccharidosis I

The New England journal of medicine, 2001-01, Vol.344 (3), p.182-188

2001

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Frequent alteration of CDKN2 (p16(INK4A)/MTS1) expression in human primary prostate carcinomas

Clinical cancer research, 1997-10, Vol.3 (10), p.1889

1997

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29 Clinical benefit of enzyme replacement therapy (ERT) in mucopolysaccharidosis II (MPS II, Hunter syndrome)

Molecular genetics and metabolism, 2007-12, Vol.92 (4), p.18-18

2007

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39 Formation of a Lysosomal Disease Testing Network to enhance the delivery of diagnostic services to patients with lysosomal storage disorders

Molecular genetics and metabolism, 2007-12, Vol.92 (4), p.20-20

2007

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A Phase III Extension Study of Aldurazyme®(Laronidase) in Mucopolysaccharidosis I

Clinical therapeutics, 2007, Vol.29, p.S111-S111

2007

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PO-0096Clinical Effectiveness Of Idursulfase In Boys Aged 0-5 Years With Hunter Syndrome: 3-year Data From The Hunter Outcome Survey

Archives of disease in childhood, 2014-10, Vol.99 (Suppl 2), p.A280-A281

2014

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PIN6 - High Dose Vancomycin Loading Versus Low Dose is Associated With Decreased Nephrotoxicity In Emergency Department Sepsis Patients

Value in health, 2015-05, Vol.18 (3), p.A229-A229

2015

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Overview of the mucopolysaccharidoses

The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome

Mannitol-facilitated CNS entry of rAAV2 vector significantly delayed the neurological disease progression in MPS IIIB mice

The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005

Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice

characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome)

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

Response to: Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome

Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II

Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report

High Dose Vancomycin Loading Versus Low Dose is Associated With Decreased Nephrotoxicity In Emergency Department Sepsis Patients

PSY33 Item Reduction and Assessment of Measurement Properties of the Hunter Syndrome – Functional Outcomes for Clinical Understanding Scale (HS-FOCUS)

Initial report from the Hunter Outcome Survey

Evaluation of 3‐methylcrotonyl‐CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening

Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)

Advances in the Treatment of Mucopolysaccharidosis Type I

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

Enzyme-Replacement Therapy in Mucopolysaccharidosis I

Frequent alteration of CDKN2 (p16(INK4A)/MTS1) expression in human primary prostate carcinomas

29 Clinical benefit of enzyme replacement therapy (ERT) in mucopolysaccharidosis II (MPS II, Hunter syndrome)

39 Formation of a Lysosomal Disease Testing Network to enhance the delivery of diagnostic services to patients with lysosomal storage disorders

A Phase III Extension Study of Aldurazyme®(Laronidase) in Mucopolysaccharidosis I

PO-0096Clinical Effectiveness Of Idursulfase In Boys Aged 0-5 Years With Hunter Syndrome: 3-year Data From The Hunter Outcome Survey

PIN6 - High Dose Vancomycin Loading Versus Low Dose is Associated With Decreased Nephrotoxicity In Emergency Department Sepsis Patients

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