Publications by authors named "Lorne Clarke"

55Publications

Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience.

Int J Neonatal Screen 2020 Nov 19;6(4). Epub 2020 Nov 19.

National MPS Society, Durham, NC 27707, USA.

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http://dx.doi.org/10.3390/ijns6040091DOI Listing
November 2020

Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.

Mol Genet Metab 2020 Aug 31. Epub 2020 Aug 31.

Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA; Shapiro Neuropsychology Consulting LLC, Portland, OR, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.08.007DOI Listing
August 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1038/s41436-020-0792-7DOI Listing
July 2020

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

Am J Med Genet A 2019 12 22;179(12):2425-2432. Epub 2019 Oct 22.

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme Mère Enfant, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.61378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899772PMC
December 2019

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.

Mol Genet Metab 2019 05 3;127(1):86-94. Epub 2019 Apr 3.

Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center "Sphinx", Academic Medical Center, University Hospital of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2019.03.010DOI Listing
May 2019

Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients.

JIMD Rep 2018 12;41:119-129. Epub 2018 Jul 12.

Department of Pediatrics, Stony Brook University School of Medicine, Stony Brook, NY, USA.

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http://dx.doi.org/10.1007/8904_2018_120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122055PMC
July 2018

Is it Fabry disease?

Genet Med 2016 12 19;18(12):1181-1185. Epub 2016 May 19.

Department of Medical Biochemistry, Leiden University, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/gim.2016.55DOI Listing
December 2016

12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.

BMC Med Genet 2016 Mar 10;17:19. Epub 2016 Mar 10.

Pediatric Division, Department of Clinical Sciences, Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi, Via Corridoni 11, 60123, Ancona, Italy.

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http://dx.doi.org/10.1186/s12881-016-0284-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785727PMC
March 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

Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.

Authors:
Kevin Michael Biglan Ira Shoulson Karl Kieburtz David Oakes Elise Kayson M Aileen Shinaman Hongwei Zhao Megan Romer Anne Young Steven Hersch Jack Penney Karen Marder Jane Paulsen Kimberly Quaid Eric Siemers Caroline Tanner William Mallonee Greg Suter Richard Dubinsky Carolyn Gray Martha Nance Scott Bundlie Dawn Radtke Sandra Kostyk Corrine Baic James Caress Francis Walker Victoria Hunt Christine O'Neill Sylvain Chouinard Stewart Factor Timothy Greenamyre Cathy Wood-Siverio Jody Corey-Bloom David Song Guerry Peavy Carol Moskowitz Melissa Wesson Ali Samii Thomas Bird Hillary Lipe Karen Blindauer Frederick Marshall Carol Zimmerman Jody Goldstein Diana Rosas Peter Novak John Caviness Charles Adler Amy Duffy Vicki Wheelock Teresa Tempkin David Richman Lauren Seeberger Roger Albin Kelvin L Chou Brad Racette Joel S Perlmutter Susan Perlman Yvette Bordelon Wayne Martin Marguerite Wieler Blair Leavitt Lynn Raymond Joji Decolongon Lorne Clarke Joseph Jankovic Christine Hunter Robert A Hauser Juan Sanchez-Ramos Sarah Furtado Oksana Suchowersky Mary Lou Klimek Mark Guttman Rustom Sethna Andrew Feigin Marie Cox Barbara Shannon Alan Percy Leon Dure Madaline Harrison William Johnson Donald Higgins Eric Molho Constance Nickerson Sharon Evans Douglas Hobson Carlos Singer Nestor Galvez-Jimenez Kathleen Shannon Cynthia Comella Christopher Ross Marie H Saint-Hilaire Claudia Testa Adam Rosenblatt Penelope Hogarth William Weiner Peter Como Rajeev Kumar Candace Cotto Julie Stout Alicia Brocht Arthur Watts Shirley Eberly Christine Weaver Tatiana Foroud James Gusella Marcy MacDonald Richard Myers Stanley Fahn Clifford Shults

JAMA Neurol 2016 Jan;73(1):102-10

Department of Neuroscience, University of California, San Diego, La Jolla.

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http://dx.doi.org/10.1001/jamaneurol.2015.2736DOI Listing
January 2016

The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders.

Best Pract Res Clin Endocrinol Metab 2015 Mar 27;29(2):219-35. Epub 2014 Aug 27.

Department of Internal Medicine/Endocrinology and Metabolism, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S1521690X140010
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http://dx.doi.org/10.1016/j.beem.2014.08.010DOI Listing
March 2015

Extracellular matrix disruption is an early event in the pathogenesis of skeletal disease in mucopolysaccharidosis I.

Mol Genet Metab 2015 Feb 7;114(2):146-55. Epub 2014 Oct 7.

Department of Medical Genetics, University of British Columbia, 950 West 28 Avenue, Vancouver, British Columbia V5Z-4H4, Canada; The Child and Family Research Institute, University of British Columbia, 950 West 28 Avenue, Vancouver, British Columbia V5Z-4H4, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192140030
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http://dx.doi.org/10.1016/j.ymgme.2014.09.012DOI Listing
February 2015

Transgenic mice expressing human glucocerebrosidase variants: utility for the study of Gaucher disease.

Blood Cells Mol Dis 2013 Aug 30;51(2):109-15. Epub 2013 Apr 30.

Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1016/j.bcmd.2013.03.006DOI Listing
August 2013

Production of α-L-iduronidase in maize for the potential treatment of a human lysosomal storage disease.

Nat Commun 2012 ;3:1062

Department of Biological Sciences, Simon Fraser University, Burnaby, British Columbia, Canada.

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http://dx.doi.org/10.1038/ncomms2070DOI Listing
February 2013

Left ventricular aneurysm in an adult patient with mucopolysaccharidosis type I: comment on pathogenesis of a novel complication.

Mol Genet Metab 2012 Aug 13;106(4):470-3. Epub 2012 Jun 13.

Division of Cardiology, Del Viso Medical Group, Buenos Aires, Argentina.

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http://dx.doi.org/10.1016/j.ymgme.2012.06.001DOI Listing
August 2012

Biomarkers for the mucopolysaccharidoses: discovery and clinical utility.

Mol Genet Metab 2012 Aug 14;106(4):395-402. Epub 2012 May 14.

Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2012.05.003DOI Listing
August 2012

Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: glycosaminoglycan storage is merely the instigator.

Authors:
Lorne A Clarke

Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v13-8

Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1093/rheumatology/ker395DOI Listing
December 2011

Laronidase for the treatment of mucopolysaccharidosis type I.

Authors:
Lorne A Clarke

Expert Rev Endocrinol Metab 2011 Nov;6(6):755-768

a Department of Medical Genetics, University of British Columbia, Child and Family Research Institute, 4500 Oak Street, RM C234, Vancouver, British Columbia, V6H-3N1, Canada.

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http://dx.doi.org/10.1586/eem.11.72DOI Listing
November 2011

Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients.

J Inherit Metab Dis 2012 Mar 6;35(2):355-62. Epub 2011 Jul 6.

Department of Medical Genetics, The Child and Family Research Institute, University of British Columbia, 4500 Oak Street, RM C234, Vancouver, BC, Canada, V6H-3N1.

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http://link.springer.com/content/pdf/10.1007/s10545-011-9369
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http://link.springer.com/10.1007/s10545-011-9369-6
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http://dx.doi.org/10.1007/s10545-011-9369-6DOI Listing
March 2012

Imaging of enzyme replacement therapy using PET.

Proc Natl Acad Sci U S A 2010 Jun 1;107(24):10842-7. Epub 2010 Jun 1.

Tri-University Meson Facility, 4004 Wesbrook Mall, Vancouver, BC, Canada.

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http://dx.doi.org/10.1073/pnas.1003247107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2890769PMC
June 2010

Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in mice.

J Clin Invest 2010 Mar 15;120(3):706-12. Epub 2010 Feb 15.

School of Biomedical Sciences, University of Queensland, Brisbane, Australia.

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http://dx.doi.org/10.1172/JCI31474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2827940PMC
March 2010

Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up.

Pediatrics 2010 Jan 21;125(1):e183-7. Epub 2009 Dec 21.

Institute of Maternal-Infantile Sciences, Polytechnic University of Marche, Ancona, Italy.

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http://dx.doi.org/10.1542/peds.2009-1728DOI Listing
January 2010

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.

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

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http://pediatrics.aappublications.org/content/123/1/19.full-
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http://dx.doi.org/10.1542/peds.2008-0416DOI Listing
January 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/10.2165/0003088-200847120-00006DOI Listing
March 2009

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.

Pediatr Res 2008 Nov;64(5):550-5

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1203/PDR.0b013e318183f132DOI Listing
November 2008

Heparin cofactor II-thrombin complex: a biomarker of MPS disease.

Mol Genet Metab 2008 Aug 3;94(4):456-61. Epub 2008 Jun 3.

Department of Medical Genetics, University of British Columbia, 4500 Oak Street, Room C234, Vancouver, BC, Canada V6H3N1.

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http://dx.doi.org/10.1016/j.ymgme.2008.05.001DOI Listing
August 2008

The mucopolysaccharidoses: a success of molecular medicine.

Authors:
Lorne A Clarke

Expert Rev Mol Med 2008 Jan 18;10:e1. Epub 2008 Jan 18.

University of British Columbia, Child and Family Research Institute, Department of Medical Genetics, 4500 Oak Street, Room C234, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1017/S1462399408000550DOI Listing
January 2008

Idursulfase for the treatment of mucopolysaccharidosis II.

Authors:
Lorne A Clarke

Expert Opin Pharmacother 2008 Feb;9(2):311-7

University of British Columbia and the Child and Family Research Institute, Department of Medical Genetics, 4500 Oak Street, Vancouver, British Columbia, Canada.

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http://www.tandfonline.com/doi/full/10.1517/14656566.9.2.311
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http://dx.doi.org/10.1517/14656566.9.2.311DOI Listing
February 2008

Synthesis of enzymatically active human alpha-L-iduronidase in Arabidopsis cgl (complex glycan-deficient) seeds.

Plant Biotechnol J 2006 Mar;4(2):169-81

Department of Biological Sciences, Simon Fraser University, 8888 University Dr., Burnaby, BC, Canada V5A 1S6.

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http://dx.doi.org/10.1111/j.1467-7652.2005.00166.xDOI Listing
March 2006

Generation of a conditional knockout of murine glucocerebrosidase: utility for the study of Gaucher disease.

Mol Genet Metab 2007 Feb 31;90(2):148-56. Epub 2006 Oct 31.

Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, 950 W28th Ave. Vancouver, BC, Canada V5Z 4H4.

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http://dx.doi.org/10.1016/j.ymgme.2006.09.008DOI Listing
February 2007

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy.

Mol Genet Metab 2006 Sep-Oct;89(1-2):129-33. Epub 2006 Jun 9.

Department of Pathology and Laboratory Medicine, Children's & Women's Health Centre of British Columbia, University of British Columbia, Vancouver, BC, Canada V6H 3V4.

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http://dx.doi.org/10.1016/j.ymgme.2006.04.016DOI Listing
October 2006

Heparin cofactor II-thrombin complex in MPS I: a biomarker of MPS disease.

Mol Genet Metab 2006 Jul 23;88(3):235-43. Epub 2006 Feb 23.

Department of Medical Genetics, University of British Columbia, Child and Family Research Institute, Vancouver, BC, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2006.01.005DOI Listing
July 2006

A homology model for human alpha-l-iduronidase: insights into human disease.

Mol Genet Metab 2005 May 10;85(1):28-37. Epub 2005 Feb 10.

Department of Chemistry, University of British Columbia, Vancouver, BC, Canada V6T 1Z1.

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http://dx.doi.org/10.1016/j.ymgme.2004.12.006DOI Listing
May 2005

Long-term follow-up of three individuals with Kabuki syndrome.

Am J Med Genet A 2004 Mar;125A(2):191-200

Institute of Genetics, Ha'emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1002/ajmg.a.20375DOI Listing
March 2004