Paul Harmatz

Paul Harmatz

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Paul Harmatz

Paul Harmatz

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Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.

Mol Genet Metab 2019 Aug 2;127(4):355-360. Epub 2019 Jul 2.

BioMarin Pharmaceutical Inc., Novato, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.06.008DOI Listing
August 2019

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.

N Engl J Med 2019 07 18;381(1):25-35. Epub 2019 Jun 18.

From Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Parkville, VIC, Australia (R.S.); Guy's and St. Thomas' NHS Foundation Trust, Evelina Children's Hospital, London (M.I.); Baylor College of Medicine, Houston (C.A.B., B.B.); Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago (J.C.); the Medical Genetics Department, Université Paris Descartes-Sorbonne Paris Cité, INSERM Unité Mixte de Recherche 1163, Institute Imagine, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris (V.C.-D., K.-H.L.Q.S.); Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance (P.D.), University of California, San Francisco, Benioff Children's Hospital Oakland, Oakland (P.H.), and BioMarin Pharmaceutical, Novato (A.C., K.J., G.S.J., K.L., M.L.C.) - all in California; Vanderbilt University Medical Center, Nashville (J.P., N.O.); BioMarin, London (A.H.L., J.D.); and Johns Hopkins University School of Medicine, Baltimore (J.H.-F.).

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http://dx.doi.org/10.1056/NEJMoa1813446DOI Listing
July 2019

Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I.

Neurology 2019 May 12;92(20):e2321-e2328. Epub 2019 Apr 12.

From the Departments of Pediatrics (K.K., I.N., V.K., K.A.D., J.B.E., E.G.S.), Psychiatry (J.R.W., B.A.M., K.O.L.), and Genetics and Metabolism (C.B.W.), University of Minnesota Medical Center; Division of Biostatistics (K.D.R.), University of Minnesota School of Public Health, Minneapolis; Department of Psychology (E.G.M., J.R.), Hospital for Sick Children-Toronto, Ontario, Canada; Department of Human Genetics (N.A., S.C.), Emory University, Atlanta, GA; and Division of Gastroenterology and Nutrition (P.H.), UCSF Benioff Children's Hospital Oakland, San Francisco, CA. Dr. Kovac is now at the School of Medicine, Washington University in St. Louis, MO. Dr. Raiman is now at the Department of Inherited Metabolic Diseases, Birmingham Children's Hospital, UK. K.A. Delaney is now at Biomarin Pharmaceuticals, San Rafael, CA.

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http://dx.doi.org/10.1212/WNL.0000000000007496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598818PMC
May 2019

Spinal cord issues in adult patients with MPS: transition of care survey.

Childs Nerv Syst 2018 09 27;34(9):1759-1765. Epub 2018 May 27.

UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.

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http://link.springer.com/10.1007/s00381-018-3834-6
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http://dx.doi.org/10.1007/s00381-018-3834-6DOI Listing
September 2018

Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis.

Mol Genet Metab 2018 06 18;124(2):152-160. Epub 2018 Apr 18.

Centre for Inherited Metabolic Diseases, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ymgme.2018.04.003DOI Listing
June 2018

Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

Am J Med Genet A 2018 02 6;176(2):301-310. Epub 2017 Dec 6.

Rare Metabolic Disease Unit, Pediatric Department, Fondazione MBBM, San Gerardo Hospital, Monza, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.38551
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http://dx.doi.org/10.1002/ajmg.a.38551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814921PMC
February 2018

Surgical management of neurological manifestations of mucopolysaccharidosis disorders.

Mol Genet Metab 2017 12 28;122S:41-48. Epub 2017 Sep 28.

Department of Neuroradiology, DASA Group, São Paulo, Brazil.

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http://dx.doi.org/10.1016/j.ymgme.2017.09.011DOI Listing
December 2017

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.

Mol Genet Metab 2017 09 25;122(1-2):4-17. Epub 2017 Jul 25.

Department of Pediatrics, Osaka University, Suita, Osaka 565-0871, Japan.

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http://dx.doi.org/10.1016/j.ymgme.2017.07.010DOI Listing
September 2017

Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.

Front Biosci (Landmark Ed) 2017 01 1;22:385-406. Epub 2017 Jan 1.

BioMarin Pharmaceutical Inc., Novato, CA, USA.

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http://dx.doi.org/10.2741/4490DOI Listing
January 2017

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).

Mol Genet Metab 2016 Apr 25;117(4):438-46. Epub 2016 Jan 25.

Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, 2525 Chicago Ave South, CSC 560, Minneapolis, MN 55404, USA; Department of Pediatrics, Division of Genetics, University of Minnesota, Minneapolis, MN 55455, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.01.009DOI Listing
April 2016

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.

Mol Genet Metab 2016 Feb 1;117(2):164-71. Epub 2015 Jun 1.

Department of Medicine/National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1016/j.ymgme.2015.05.012DOI Listing
February 2016

Implementing evidence-driven individualized treatment plans within Morquio A Syndrome.

Mol Genet Metab 2016 Feb 29;117(2):217. Epub 2015 Dec 29.

Pulmonary Medicine, UCSF Benioff Children's Hospital, Oakland Campus, Oakland, California, USA.

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http://dx.doi.org/10.1016/j.ymgme.2015.12.157DOI Listing
February 2016

Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y.

Pediatr Res 2015 Dec 2;78(6):717-22. Epub 2015 Sep 2.

UCSF Benioff Children's Hospital Oakland, Department of Gastroenterology, Oakland, California.

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http://dx.doi.org/10.1038/pr.2015.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4700045PMC
December 2015

Enzyme Replacement Therapies and Immunogenicity in Lysosomal Storage Diseases: Is There a Pattern?

Authors:
Paul Harmatz

Clin Ther 2015 Sep 1;37(9):2130-4. Epub 2015 Aug 1.

UCSF Benioff Children's Hospital Oakland, Oakland, California. Electronic address:

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http://dx.doi.org/10.1016/j.clinthera.2015.06.004DOI Listing
September 2015

Pulmonary hypertension in well-transfused thalassemia major patients.

Blood Cells Mol Dis 2015 Feb 24;54(2):189-94. Epub 2014 Nov 24.

Division of Cardiology, Children's Hospital Los Angeles, Los Angeles, CA, USA; Department of Radiology, Children's Hospital Los Angeles, Los Angeles, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2014.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297514PMC
February 2015

Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.

Hum Mutat 2014 Nov 17;35(11):1271-9. Epub 2014 Sep 17.

Molecular and Cell Biology Laboratory, Pediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Florence, Italy; Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1002/humu.22635DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4238747PMC
November 2014

Orthopedic management of the extremities in patients with Morquio A syndrome.

J Child Orthop 2014 Aug 8;8(4):295-304. Epub 2014 Jul 8.

Department of Orthopaedic Surgery and Sports Medicine, Seattle Children's Hospital, University of Washington, Seattle, WA, USA,

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http://dx.doi.org/10.1007/s11832-014-0601-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4128951PMC
August 2014

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI.

J Inherit Metab Dis 2014 Mar 10;37(2):277-87. Epub 2013 Oct 10.

Children's Hospital & Research Center Oakland, 747 52nd Street, Oakland, CA, USA,

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http://dx.doi.org/10.1007/s10545-013-9654-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976509PMC
March 2014

Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients.

Pediatr Res 2013 Dec 3;74(6):712-20. Epub 2013 Sep 3.

Department of Pediatrics, Los Angeles Biomedical Research Institute, Harbor-UCLA Medical Center, Torrance, California.

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http://dx.doi.org/10.1038/pr.2013.158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3855632PMC
December 2013

Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery.

J Inherit Metab Dis 2013 Nov 14;36(6):1005-13. Epub 2013 Feb 14.

Department of Pediatric and Adolescent Medicine, Villa Metabolica, University Medical Center of the Johannes Gutenberg-University, Mainz, Germany,

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http://link.springer.com/content/pdf/10.1007/s10545-013-9591
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http://link.springer.com/10.1007/s10545-013-9591-5
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http://dx.doi.org/10.1007/s10545-013-9591-5DOI Listing
November 2013

Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome).

JIMD Rep 2013 12;11:65-72. Epub 2013 Apr 12.

Department of Paediatric and Adolescent Medicine, Villa Metabolica, University Medical Centre of the Johannes Gutenberg-University Mainz, Langenbeckstr. 2, 55131, Mainz, Germany.

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http://dx.doi.org/10.1007/8904_2013_223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755552PMC
August 2013

The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).

Mol Genet Metab 2013 May 14;109(1):41-8. Epub 2013 Mar 14.

Genetic Medicine, Manchester Academic Health Science Centre, St Mary's Hospital, University of Manchester, Oxford Road, Manchester M13 9WL, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192130009
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http://dx.doi.org/10.1016/j.ymgme.2013.03.001DOI Listing
May 2013

Anaesthesia and airway management in mucopolysaccharidosis.

J Inherit Metab Dis 2013 Mar 30;36(2):211-9. Epub 2012 Nov 30.

Royal Manchester Children's Hospital, Oxford Road, Manchester, UK.

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http://dx.doi.org/10.1007/s10545-012-9563-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590422PMC
March 2013

Exercise performance in thalassemia major: correlation with cardiac iron burden.

Am J Hematol 2013 Mar 22;88(3):193-7. Epub 2013 Jan 22.

Division of Pediatric Pulmonology, Children's Hospital Los Angeles, USC Keck School of Medicine, Los Angeles, California, USA.

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http://doi.wiley.com/10.1002/ajh.23370
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http://dx.doi.org/10.1002/ajh.23370DOI Listing
March 2013

Combined chelation therapy with deferasirox and deferoxamine in thalassemia.

Blood Cells Mol Dis 2013 Feb 11;50(2):99-104. Epub 2012 Nov 11.

Hematology/Oncology, Children's Hospital & Research Center, Oakland, CA 94609, USA.

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http://dx.doi.org/10.1016/j.bcmd.2012.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3592978PMC
February 2013

Orthopedic management of mucopolysaccharide disease.

J Pediatr Rehabil Med 2010 ;3(1):47-56

Seattle Children's Hospital, Department of Orthopedic Surgery, Seattle, WA, USA University of Washington, Department of Orthopedics and Sports Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.3233/PRM-2010-0102DOI Listing
October 2012

Bone density assessment in patients with mucopolysaccharidosis: A preliminary report from patients with MPS II and VI.

J Pediatr Rehabil Med 2010 ;3(1):13-23

Department of Hematology, at the Children's Hospital & Research Center, Oakland, CA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2898152PMC
October 2012

Electrocardiographic consequences of cardiac iron overload in thalassemia major.

Am J Hematol 2012 Feb 4;87(2):139-44. Epub 2011 Nov 4.

Division of Cardiology, Children's Hospital Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, CA, USA.

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http://doi.wiley.com/10.1002/ajh.22205
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http://dx.doi.org/10.1002/ajh.22205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306475PMC
February 2012

Pulmonary function in thalassaemia major and its correlation with body iron stores.

Br J Haematol 2011 Oct 2;155(1):102-5. Epub 2011 Aug 2.

Divisions of Pediatric Pulmonology Pediatric Cardiology Hematology, Children's Hospital Los Angeles, 4650 Sunset Blvd, Los Angeles, CA 90027, USA.

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http://doi.wiley.com/10.1111/j.1365-2141.2011.08808.x
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http://dx.doi.org/10.1111/j.1365-2141.2011.08808.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3169737PMC
October 2011

Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis.

Br J Ophthalmol 2011 May 18;95(5):613-9. Epub 2010 Sep 18.

The Veneto Eye Bank Foundation, Venice, Italy.

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http://dx.doi.org/10.1136/bjo.2010.179937DOI Listing
May 2011

Enzyme replacement therapy with galsulfase for mucopolysaccharidosis VI: clinical facts and figures.

Authors:
Paul Harmatz

Turk J Pediatr 2010 Sep-Oct;52(5):443-9

Children's Hospital and Research Center Oakland, Oakland, CA, USA.

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April 2011

Follow-up report on the 2-year cardiac data from a deferasirox monotherapy trial.

Am J Hematol 2010 Oct;85(10):818-9

Department of Pediatrics and Radiology, Divisions of Cardiology and Radiology, Children's Hospital of Los Angeles, CA.

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http://dx.doi.org/10.1002/ajh.21830DOI Listing
October 2010

The effect of deferasirox on cardiac iron in thalassemia major: impact of total body iron stores.

Blood 2010 Jul 26;116(4):537-43. Epub 2010 Apr 26.

Children's Hospital of Los Angeles, 4650 Sunset Blvd, Los Angeles, CA 90027, USA.

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http://dx.doi.org/10.1182/blood-2009-11-250308DOI Listing
July 2010

Mucopolysaccharidosis VI.

Orphanet J Rare Dis 2010 Apr 12;5. Epub 2010 Apr 12.

Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades Hospital, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-5-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873242PMC
April 2010

Non-invasive assessment of tissue iron overload.

Hematology Am Soc Hematol Educ Program 2009 :215-21

University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1182/asheducation-2009.1.215DOI Listing
March 2010

Elevated exhaled carbon monoxide concentration in hemoglobinopathies and its relation to red blood cell transfusion therapy.

Pediatr Hematol Oncol 2010 Mar;27(2):112-21

Department of Gastroenterology, Children's Hospital & Research Center Oakland, Oakland, California 94609, USA.

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http://dx.doi.org/10.3109/08880010903536227DOI Listing
March 2010

Iron metabolism and iron chelation in sickle cell disease.

Acta Haematol 2009 10;122(2-3):174-83. Epub 2009 Nov 10.

Children's Hospital & Research Center Oakland, Oakland, Calif., USA.

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http://dx.doi.org/10.1159/000243802DOI Listing
November 2009

Patterns of hepatic iron distribution in patients with chronically transfused thalassemia and sickle cell disease.

Am J Hematol 2009 Aug;84(8):480-3

Division of Cardiology, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California 90027-0034, USA.

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http://doi.wiley.com/10.1002/ajh.21456
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http://dx.doi.org/10.1002/ajh.21456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2884400PMC
August 2009

Pharmacokinetics of sapropterin in patients with phenylketonuria.

Clin Pharmacokinet 2008 ;47(12):817-25

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital d'Enfants, CHU Brabois, Vandoeuvre les Nancy, France.

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http://dx.doi.org/10.2165/0003088-200847120-00006.DOI Listing
March 2009

Altered iron metabolism in children with human immunodeficiency virus disease.

Pediatr Hematol Oncol 2009 Mar;26(2):69-84

Department of Gastroenterology and Nutrition, Children's Hospital & Research Center Oakland, 747 52nd Street, Oakland, CA 94609, USA.

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http://www.tandfonline.com/doi/full/10.1080/0888001090275482
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http://dx.doi.org/10.1080/08880010902754826DOI Listing
March 2009