E. Kakkis

发表

Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII.

W. Sly, J. Grubb, C. Vogler, 2005, Proceedings of the National Academy of Sciences of the United States of America.

The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases

E. Kakkis, Brigitta E Miyamoto, 2011, Orphanet journal of rare diseases.

Mannose 6-phosphate conjugation is not sufficient to allow induction of immune tolerance to phenylalanine ammonia-lyase in dogs.

J. Lemontt, P. Dickson, M. Vera, 2013, JIMD reports.

Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints

F. Goodsaid, M. Orfali, S. Boynton, 2015, Orphanet Journal of Rare Diseases.

Successful induction of immune tolerance to enzyme replacement therapy in canine mucopolysaccharidosis I.

J. Lemontt, E. Kakkis, T. Lester, 2004, Proceedings of the National Academy of Sciences of the United States of America.

A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease.

C. Whitley, P. Harmatz, Raymond Y. Wang, 2018, Molecular genetics and metabolism.

The multi-domain responder index: a novel analysis tool to capture a broader assessment of clinical benefit in heterogeneous complex rare diseases

E. Kakkis, P. Tandon, 2021, Orphanet Journal of Rare Diseases.

Retrospective chart review of urinary glycosaminoglycan excretion and long-term clinical outcomes of enzyme replacement therapy in patients with mucopolysaccharidoses.

D. Marsden, K. Tylee, E. Kakkis, 2020, Molecular genetics and metabolism.

Prednisolone reduces the interferon response to AAV in cynomolgus macaques and may increase liver gene expression

Claude C. Warzecha, Lili Wang, M. Betts, 2022, Molecular therapy. Methods & clinical development.

Carbohydrate Structures of Recombinant Human α-l-Iduronidase Secreted by Chinese Hamster Ovary Cells*

K. Faull, E. Neufeld, K. Zhao, 1997, The Journal of Biological Chemistry.

Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model

M. Vellard, E. Kakkis, Paul Lee, 2017, PloS one.

An active chromatin structure acquired by translocated c-myc genes

K. Calame, J. Prehn, E. Kakkis, 1986, Molecular and cellular biology.

Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I.

W. Mobley, M. Mcentee, P. Dickson, 2004, Molecular genetics and metabolism.

A transcriptional repressor of c-myc

K. Calame, W. Gillespie, E. Kakkis, 1989, Nature.

Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept

S. Cullen, M. Vellard, Ida Annunziata, 2020, Molecular therapy. Methods & clinical development.

Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study.

J. Vockley, B. Burton, N. Longo, 2009, The Journal of pediatrics.

Enzyme-replacement therapy in mucopolysaccharidosis I.

J. Belmont, I. Walot, J. Phillips, 2001, The New England journal of medicine.

First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient.

W. Sly, E. Kakkis, J. Fox, 2015, Molecular genetics and metabolism.

Patients as key partners in rare disease drug development

Max G. Bronstein, E. Kakkis, 2016, Nature Reviews Drug Discovery.

Arterial Pathology in Canine Mucopolysaccharidosis-I and Response to Therapy

M. Mcentee, P. Dickson, J. Wall, 2010, Laboratory Investigation.

Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression

R. Giugliani, P. Dickson, S. Fagondes, 2008, American journal of medical genetics. Part A.

Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.

J. Wittes, R. Giugliani, J. E. Wraith, 2006, The Journal of pediatrics.

Burosumab Therapy in Children with X‐Linked Hypophosphatemia

J. S. San Martin, M. Whyte, A. Linglart, 2018, The New England journal of medicine.

Enzyme Replacement in a Human Model of Mucopolysaccharidosis IVA In Vitro and Its Biodistribution in the Cartilage of Wild Type Mice

M. Vellard, V. Koppaka, E. Kakkis, 2010, PloS one.

The transformation of drug development for the 21st century: Time for a change.

E. Kakkis, 2022, Molecular genetics and metabolism.

Overexpression of the Human Lysosomal Enzyme α-L-Iduronidase in Chinese Hamster Ovary Cells

A. Matynia, A. Jonas, E. Neufeld, 1994 .

Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I.

A. Schmidtchen, M. Mcentee, D. Ward, 1996, Biochemical and molecular medicine.

Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study

A. Pestronk, P. Shieh, Y. Caraco, 2016, Journal of neuromuscular diseases.

and Are Younger Than 5 Years: Results of a Multinational Study of Enzyme Replacement Therapy in Patients Who Have Mucopolysaccharidosis I

J. E. Wraith, N. Guffon, M. Beck, 2013 .

Enzyme Replacement Therapy in Patients Who Have Mucopolysaccharidosis I and Are Younger Than 5 Years: Results of a Multinational Study of Recombinant Human α-l-Iduronidase (Laronidase)

J. E. Wraith, A. T. van der Ploeg, N. Guffon, 2007, Pediatrics.

Enzyme replacement therapy in feline mucopolysaccharidosis I.

Q. Wan, T. O'Malley, M. Haskins, 2001, Molecular genetics and metabolism.

Identification and molecular characterization of α‐L‐iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy

D. Brooks, J. Hopwood, P. Clements, 2004 .

Retrovirus-mediated transfer of the human α- L-iduronidase cDNA into human hematopoietic progenitor cells leads to correction in trans of Hurler fibroblasts

D. Kohn, X. Yu, E. Kakkis, 1997, Gene Therapy.

Enzyme replacement therapy for the mucopolysaccharide storage disorders

E. Kakkis, 2002, Expert opinion on investigational drugs.

Transcription factors in terminally differentiated B cells.

C. Peterson, K. Calame, B. Tsao, 1988, Current topics in microbiology and immunology.

A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years.

R. Hoft, I. Walot, M. Diament, 2007, Molecular genetics and metabolism.

Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA

H. Morizono, R. Finkel, Y. Hathout, 2017, Neuromuscular Disorders.

Serum neural cell adhesion molecule is hyposialylated in hereditary inclusion body myopathy.

Daniel No, D. Darvish, E. Kakkis, 2012, Genetic testing and molecular biomarkers.

Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I

D. Rapoport, J. E. Wraith, J. Muenzer, 2009, Pediatrics.

Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I.

M. Mcentee, P. Dickson, E. Kakkis, 2008, The Journal of clinical investigation.

Enzyme replacement in a canine model of Hurler syndrome.

M. Mcentee, A. Jonas, E. Neufeld, 1994, Proceedings of the National Academy of Sciences of the United States of America.

Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses.

D. Marsden, E. Kakkis, 2020, Molecular genetics and metabolism.

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

Joseph Muenzer, Lorne A Clarke, Michael Beck, 2004, The Journal of pediatrics.

Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.

R. Giugliani, D. Horovitz, E. Kakkis, 2010, Molecular genetics and metabolism.

Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I

D. Brooks, J. Hopwood, E. Kakkis, 2003, The Lancet.

Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy

M. Tarnopolsky, H. Lochmüller, R. Horvath, 2021, Journal of neuromuscular diseases.

Research challenges in central nervous system manifestations of inborn errors of metabolism.

J. Mink, J. Provenzale, M. Patterson, 2011, Molecular genetics and metabolism.

Intrathecal administration of AAV vectors for the treatment of lysosomal storage in the brains of MPS I mice

J. Bastacky, W. Mobley, M. Vellard, 2006, Gene Therapy.

Hemodynamic Changes after Protamine Administration: Association with Mortality after Coronary Artery Bypass Surgery

M. Newman, M. Stafford-Smith, I. Welsby, 2005, Anesthesiology.

UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment.

J. Vockley, B. Burton, N. Longo, 2017, Molecular genetics and metabolism.

Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart review.

J. Vockley, D. Marsden, E. McCracken, 2015, Molecular genetics and metabolism.

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I

C. Toro, C. Tifft, C. Gellera, 2020, Journal of clinical medicine.

Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

D. Brooks, J. Hopwood, P. Clements, 2004, Human mutation.

A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I.

R. Giugliani, J. Clarke, E. Kakkis, 2009, Molecular genetics and metabolism.

Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells.

A. Matynia, A. Jonas, E. Neufeld, 1994, Protein Expression and Purification.

Repeated intrathecal injections of recombinant human 4-sulphatase remove dural storage in mature mucopolysaccharidosis VI cats primed with a short-course tolerisation regimen.

J. Finnie, J. Hopwood, C. O’Neill, 2010, Molecular genetics and metabolism.

Penetration, diffusion, and uptake of recombinant human alpha-L-iduronidase after intraventricular injection into the rat brain.

W. Mobley, P. Dickson, P. Belichenko, 2005, Molecular genetics and metabolism.

Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid.

M. Mcentee, P. Dickson, C. Vogler, 2007, Molecular genetics and metabolism.

Vestronidase alfa: Recombinant human β-glucuronidase as an enzyme replacement therapy for MPS VII.

S. Cullen, W. Sly, J. Grubb, 2020, Molecular genetics and metabolism.

Continuous infusion of enzyme replacement therapy is inferior to weekly infusions in MPS I dogs

P. Dickson, E. Kakkis, T. Lester, 2009, Journal of Inherited Metabolic Disease.

A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy

M. Tarnopolsky, H. Lochmüller, M. Mirabella, 2019, Neurology.

Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion

I. Nishino, Hanns Lochmüller, H. Mansbach, 2017, Neuromuscular Disorders.

Tetrahydrobiopterin (6R-BH4): Novel Therapy for Endothelial Dysfunction in Sickle Cell Disease

K. Ataga, P. Swerdlow, A. Kutlar, 2008 .

Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD)

J. Vockley, B. Burton, N. Longo, 2018, Journal of Inherited Metabolic Disease.

Results from a 78-week, single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)

J. Vockley, B. Burton, N. Longo, 2018, Journal of Inherited Metabolic Disease.

A novel, randomized, placebo-controlled, blind-start, single-crossover phase 3 study to assess the efficacy and safety of UX003 (rhGUS) enzyme replacement therapy in patients with MPS VII

Karen Jacobs, C. Whitley, P. Harmatz, 2017 .

DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): a new patient and delineation of neurologic variability among recessive cases.

R. Lachman, E. Kakkis, H. J. Lin, 1993, American journal of medical genetics.

A plasmacytoma-specific factor binds the c-myc promoter region.

K. Calame, E. Kakkis, 1987, Proceedings of the National Academy of Sciences of the United States of America.

A repressor of c-myc transcription is found specifically in plasmacytomas.

K. Calame, E. Kakkis, K. Riggs, 1988, Current topics in microbiology and immunology.

A novel approach to characterization and categorization of infusion reactions associated with ERT using adverse physiology related groups

S. Agarwal, C. Haller, E. Kakkis, 2016 .

Alpha-L-Iduronidase: The Development of Aldurazyme (Laronidase)

E. Kakkis, 2005 .

Strong transcriptional activation of translocated c-myc genes occurs without a strong nearby enhancer or promoter

E. Kakkis, M. Mercola, K. Calame, 1988, Nucleic Acids Res..

Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders

H. Lochmüller, E. Kakkis, Antonio Nino Ramirez, 2021, Orphanet Journal of Rare Diseases.

A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I.

R. Giugliani, J. Clarke, E. Kakkis, 2009, Molecular genetics and metabolism.