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Author Joseph Muenzer

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Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.

David Viskochil, Lorne A Clarke, Luisa Bay, Hillary Keenan, Joseph Muenzer, Nathalie Guffon,

Mucopolysaccharidosis Type I (MPS I), caused by deficiency of α-L-iduronidase results in progressive, multisystemic disease with a broad phenotypic spectrum including patients with severe (Hurler syndrome) to attenuated (Hurler-Scheie and Scheie syndromes) disease. Disordered growth is common with either phenotype. The study objectives were to construct sex- and age-specific estimated ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2019, 179(12):2425-2432]

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Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.

Lorne A Clarke, Roberto Giugliani, Nathalie Guffon, Simon A Jones, Hillary A Keenan, Maria V Munoz-Rojas, Torayuki Okuyama, David Viskochil, Chester B Whitley, Frits A Wijburg, Joseph Muenzer,

Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder resulting from pathogenic variants in the α-L-iduronidase (IDUA) gene. Clinical phenotypes range from severe (Hurler syndrome) to attenuated (Hurler-Scheie and Scheie syndromes) and vary in age of onset, severity, and rate of progression. Defining the phenotype at diagnosis is ... Read more >>

Clin. Genet. (Clinical genetics)
[2019, 96(4):281-289]

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The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.

Jennifer L Taylor, Kristin Clinard, Cynthia M Powell, Catherine Rehder, Sarah P Young, Deeksha Bali, Sara E Beckloff, Lisa M Gehtland, Alex R Kemper, Stacey Lee, David Millington, Hari S Patel, Scott M Shone, Carol Woodell, Scott J Zimmerman, Donald B Bailey, Joseph Muenzer,

OBJECTIVE:To evaluate the performance of a 2-tiered newborn screening method for mucopolysaccharidosis type I (MPS I) in North Carolina. STUDY DESIGN:The screening algorithm included a flow injection analysis-tandem mass spectrometry assay as a first-tier screening method to measure α-L-iduronidase (IDUA) enzyme activity and Sanger sequencing of the IDUA gene on ... Read more >>

J. Pediatr. (The Journal of pediatrics)
[2019, 211:193-200.e2]

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Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.

Mehmet Umut Akyol, Tord D Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I Gold, Andrea Jester, Simon A Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, , ,

INTRODUCTION:Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan sulphate and chondroitin-6-sulphate. The multiple clinical manifestations of MPS IVA present numerous challenges for management and necessitate the need for individualised ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2019, 14(1):137]

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Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.

Mehmet Umut Akyol, Tord D Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I Gold, Andrea Jester, Simon A Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, , ,

INTRODUCTION:Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressive nature of MPS VI necessitates a multidisciplinary team approach and there is a need for robust guidance to achieve optimal management. This programme was convened ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2019, 14(1):118]

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Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.

Frits A Wijburg, Chester B Whitley, Joseph Muenzer, Serena Gasperini, Mireia Del Toro, Nicole Muschol, Maureen Cleary, Caroline Sevin, Elsa Shapiro, Parul Bhargava, Douglas Kerr, David Alexanderian,

BACKGROUND:Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) is a lysosomal disorder wherein deficient heparan-N-sulfatase (HNS) activity results in the accumulation of heparan sulfate in the central nervous system and is associated with progressive neurodegeneration in early childhood. We report on the efficacy, pharmacokinetics, safety, and tolerability of intrathecal (IT) administration ... Read more >>

Mol. Genet. Metab. (Molecular genetics and metabolism)
[2019, 126(2):121-130]

Cited: 3 times

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

Haiyan Fu, Kim Zaraspe, Naoko Murakami, Aaron S Meadows, Ricardo J Pineda, Douglas M McCarty, Joseph Muenzer,

No treatment is available to address the neurological need and reversibility of MPS II. We developed a scAAV9-hIDS vector to deliver the human iduronate-2-sulfatase gene and test it in mouse model. We treated MPS II mice at different disease stages with an intravenous injection of scAAV9-mCMV-hIDS at different doses. The ... Read more >>

Mol Ther Methods Clin Dev (Molecular therapy. Methods & clinical development)
[2018, 10:327-340]

Cited: 1 time

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Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS).

Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, Anna Tylki-Szymańska, Virginie Jego, Michael Beck,

BACKGROUND:Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase (I2S). Treatment is available in the form of enzyme replacement therapy (ERT) with recombinant I2S. Clinical outcomes following ≥3 years of ERT with idursulfase were investigated in a broad population of ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2017, 12(1):161]

Cited: 4 times

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

David Viskochil, Joseph Muenzer, Nathalie Guffon, Christophe Garin, M Veronica Munoz-Rojas, Kristin A Moy, Douglas T Hutchinson,

To characterize carpal tunnel syndrome (CTS) in patients with mucopolysaccharidosis I (MPS I).Data were included for patients with MPS I who had either nerve conduction examination that included a diagnosis of CTS or who had CTS release surgery. Although this represented a subset of patients with CTS in the MPS ... Read more >>

Dev Med Child Neurol (Developmental medicine and child neurology)
[2017, 59(12):1269-1275]

Cited: 2 times

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

Natario L Couser, Daniel S Marchuk, Laurie D Smith, Alexandra Arreola, Kathleen A Kaiser-Rogers, Joseph Muenzer, Arti Pandya, Muge Gucsavas-Calikoglu, Cynthia M Powell,

Mitochondrial DNA depletion syndrome 5 (MIM 612073) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the beta subunit of the succinate-CoA ligase gene located within the 13q14 band. We describe two siblings of Hispanic descent with SUCLA2-related mitochondrial depletion syndrome (encephalomyopathic form with ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2017, 173(10):2720-2724]

Cited: 0 times

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Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.

Joseph Muenzer, Simon A Jones, Anna Tylki-Szymańska, Paul Harmatz, Nancy J Mendelsohn, Nathalie Guffon, Roberto Giugliani, Barbara K Burton, Maurizio Scarpa, Michael Beck, Yvonne Jangelind, Elizabeth Hernberg-Stahl, Maria Paabøl Larsen, Tom Pulles, David A H Whiteman,

Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfatase. Disease-specific treatment is available in the form of enzyme replacement therapy with intravenous idursulfase (Elaprase®, Shire). Since 2005, the Hunter Outcome Survey (HOS) ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2017, 12(1):82]

Cited: 11 times

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Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.

Johanna H van der Lee, Jonathan Morton, Heather R Adams, Lorne Clarke, Berendine Johanne Ebbink, Maria L Escolar, Roberto Giugliani, Paul Harmatz, Melissa Hogan, Simon Jones, Shauna Kearney, Joseph Muenzer, Stewart Rust, Margaret Semrud-Clikeman, Frits A Wijburg, Zi-Fan Yu, Darren Janzen, Elsa Shapiro,

The design and conduct of clinical studies to evaluate the effects of novel therapies on central nervous system manifestations in children with neuronopathic mucopolysaccharidoses is challenging. Owing to the rarity of these disorders, multinational studies are often needed to recruit enough patients to provide meaningful data and statistical power. This ... Read more >>

Mol. Genet. Metab. (Molecular genetics and metabolism)
[2017, 121(2):70-79]

Cited: 5 times

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

William I Wooten, Marianne S Muhlebach, Joseph Muenzer, Ceila E Loughlin, Bradley V Vaughn,

<label>ABSTRACT</label>Mucolipidosis II (Inclusion cell or I-cell disease) is an autosomal recessive lysosomal storage disorder clinically comparable to the mucopolysaccharidoses (MPS), characterized by progressive respiratory and neurologic deterioration. Sleep problems, especially obstructive sleep apnea (OSA) and disrupted sleep architecture, are observed in other lysosomal storage diseases but have not been described ... Read more >>

J Clin Sleep Med (Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine)
[2016, 12(12):1695-1696]

Cited: 0 times

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Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.

Lorne A Clarke, Andrea M Atherton, Barbara K Burton, Debra L Day-Salvatore, Paige Kaplan, Nancy D Leslie, C Ronald Scott, David W Stockton, Janet A Thomas, Joseph Muenzer,

J. Pediatr. (The Journal of pediatrics)
[2017, 182:363-370]

Cited: 11 times

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Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.

Mihaela Pupavac, David Watkins, Francis Petrella, Somayyeh Fahiminiya, Alexandre Janer, Warren Cheung, Anne-Claude Gingras, Tomi Pastinen, Joseph Muenzer, Jacek Majewski, Eric A Shoubridge, David S Rosenblatt,

Vitamin B12 (cobalamin, Cbl) cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) are required for the activity of the enzymes methylmalonyl-CoA mutase (MCM) and methionine synthase (MS). Inborn errors of Cbl metabolism are rare Mendelian disorders associated with hematological and neurological manifestations, and elevations of methylmalonic acid and/or homocysteine in the blood ... Read more >>

Hum. Mutat. (Human mutation)
[2016, 37(9):976-982]

Cited: 3 times

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

Natario L Couser, Julie McClure, Michael W Evans, Nathan R Haines, Susan K Burden, Joseph Muenzer,

The most common cause of isolated inherited homocysteinemia is a deficiency of the enzyme cystathionine β-synthase (CBS). Clinical manifestations of CBS deficiency can include ectopia lentis, thromboembolism, marfanoid habits, and intellectual disability. CBS deficiency, which affects the transsulfuration pathway, is marked biochemically by elevated serum homocysteine and plasma methionine. We ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2017, 38(1):91-94]

Cited: 2 times

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Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment.

Christian J Hendriksz, Joseph Muenzer, Adeline Vanderver, Jonathan M Davis, Barbara K Burton, Nancy J Mendelsohn, Nan Wang, Luying Pan, Arian Pano, Ann J Barbier,

In mucopolysaccharidoses (MPS), glycosaminoglycans (GAG) accumulate in tissues. In MPS II, approximately two-thirds of patients are cognitively impaired. We investigated levels of GAG in cerebrospinal fluid (CSF) in different populations from four clinical studies (including NCT00920647 and NCT01449240). Data indicate that MPS II patients with cognitive impairment have elevated levels ... Read more >>

Mol Genet Metab Rep (Molecular genetics and metabolism reports)
[2015, 5:103-106]

Cited: 4 times

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

Zheng Fan, Keith Kocis, Robert Valley, James F Howard, Manisha Chopra, Yasheng Chen, Hongyu An, Weili Lin, Joseph Muenzer, William Powers,

We evaluated safety and feasibility of high-pressure transvenous limb perfusion in an upper extremity of adult patients with muscular dystrophy, after completing a similar study in a lower extremity. A dose escalation study of single-limb perfusion with 0.9% saline was carried out in nine adults with muscular dystrophies under intravenous ... Read more >>

Hum. Gene Ther. (Human gene therapy)
[2015, 26(9):614-621]

Cited: 8 times

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Long-term safety and efficacy of sapropterin: the PKUDOS registry experience.

Nicola Longo, Georgianne L Arnold, Gabriella Pridjian, Gregory M Enns, Can Ficicioglu, Susan Parker, Jessica L Cohen-Pfeffer, ,

The Phenylketonuria (PKU) Demographics, Outcomes and Safety (PKUDOS) registry is designed to provide longitudinal safety and efficacy data on subjects with PKU who are (or have been) treated with sapropterin dihydrochloride. The PKUDOS population consists of 1189 subjects with PKU: N = 504 who were continuously exposed to sapropterin from ... Read more >>

Mol. Genet. Metab. (Molecular genetics and metabolism)
[2015, 114(4):557-563]

Cited: 10 times

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A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II.

Joseph Muenzer, Christian J Hendriksz, Zheng Fan, Suresh Vijayaraghavan, Victor Perry, Saikat Santra, Guirish A Solanki, Mary Ann Mascelli, Luying Pan, Nan Wang, Kenneth Sciarappa, Ann J Barbier,

Approximately two-thirds of patients with the lysosomal storage disease mucopolysaccharidosis II have progressive cognitive impairment. Intravenous (i.v.) enzyme replacement therapy does not affect cognitive impairment because recombinant iduronate-2-sulfatase (idursulfase) does not penetrate the blood-brain barrier at therapeutic concentrations. We examined the safety of idursulfase formulated for intrathecal administration (idursulfase-IT) via ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2016, 18(1):73-81]

Cited: 43 times

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The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire: item reduction and further validation.

Ingela Wiklund, Mireia Raluy-Callado, Wen-Hung Chen, Joseph Muenzer, Juanzhi Fang, David Whiteman,

The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire is a patient and parent-completed disease-specific instrument used in Hunter syndrome (mucopolysaccharidosis II), a rare paediatric progressive multi-systemic lysosomal storage disease. The objective of this study was to shorten the number of items of the Questionnaire to reduce response burden ... Read more >>

Qual Life Res (Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation)
[2014, 23(9):2457-2462]

Cited: 6 times

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

Michael Beck, Pamela Arn, Roberto Giugliani, Joseph Muenzer, Torayuki Okuyama, John Taylor, Shari Fallet,

In this study, we aimed to describe the natural history of mucopolysaccharidosis I.Data from 1,046 patients who enrolled in the MPS I Registry as of August 2013 were available for descriptive analysis. Only data from untreated patients and data prior to treatment for patients who received treatment were considered. Age ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2014, 16(10):759-765]

Cited: 38 times

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Early initiation of enzyme replacement therapy for the mucopolysaccharidoses.

Joseph Muenzer,

The mucopolysaccharidoses (MPS), a group of rare genetic disorders caused by defects in glycosaminoglycan (GAG) catabolism, are progressive, multi-systemic diseases with a high burden of morbidity. Enzyme replacement therapy (ERT) is available for MPS I, II, and VI, and may improve walking ability, endurance, and pulmonary function as evidenced by ... Read more >>

Mol. Genet. Metab. (Molecular genetics and metabolism)
[2014, 111(2):63-72]

Cited: 62 times

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Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.

Christina Lampe, Andrea Atherton, Barbara K Burton, Maria Descartes, Roberto Giugliani, Dafne D G Horovitz, Sandra O Kyosen, Tatiana S P C Magalhães, Ana Maria Martins, Nancy J Mendelsohn, Joseph Muenzer, Laurie D Smith,

Mucopolysaccharidosis (MPS) II, or Hunter syndrome, is a lysosomal storage disease characterized by multi-systemic involvement and a progressive clinical course. Enzyme replacement therapy with idursulfase has been approved in more than 50 countries worldwide; however, safety and efficacy data from clinical studies are currently only available for patients 1.4 years ... Read more >>

JIMD Rep (JIMD reports)
[2014, 14:99-113]

Cited: 11 times

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Relationship of sleep to pulmonary function in mucopolysaccharidosis II.

William I Wooten, Joseph Muenzer, Bradley V Vaughn, Marianne S Muhlebach,

To study the sleep characteristics, pulmonary function, and their relationships in an enzyme naive population of patients with mucopolysaccharidoses (MPS) II (Hunter syndrome).The analyzed subjects (30 patients with MPS II with a median age of 9 years) had been enrolled in an MPS II natural history study and a phase ... Read more >>

J. Pediatr. (The Journal of pediatrics)
[2013, 162(6):1210-1215]

Cited: 7 times

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