Publications by authors named "Kim-Hanh Le Quan Sang"

25Publications

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

Correction to: Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes.

Orphanet J Rare Dis 2019 May 23;14(1):113. Epub 2019 May 23.

Departments of Orthopaedic Surgery & Medicine, The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1186/s13023-019-1096-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6532205PMC
May 2019

Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes.

Orphanet J Rare Dis 2019 05 3;14(1):98. Epub 2019 May 3.

Departments of Orthopaedic Surgery & Medicine, The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1186/s13023-019-1068-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499994PMC
May 2019

Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases.

Orphanet J Rare Dis 2017 06 30;12(1):123. Epub 2017 Jun 30.

Institut Imagine, Centre de Référence Maladies Osseuses Constitutionnelles, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants malades, 149 rue de Sèvres, 75015, Paris, France.

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http://ojrd.biomedcentral.com/articles/10.1186/s13023-017-06
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http://dx.doi.org/10.1186/s13023-017-0674-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5493013PMC
June 2017

Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.

J Inherit Metab Dis 2015 Sep 10;38(5):791-6. Epub 2015 Apr 10.

Reference Centre for Inherited Metabolic Diseases Necker-Enfants Malades Hospital, Assistance Publique - Hôpitaux de Paris, 149 rue de Sèvres, Paris, 75015, France,

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http://dx.doi.org/10.1007/s10545-015-9844-6DOI Listing
September 2015

Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.

Ann Neurol 2014 Oct 30;76(4):509-21. Epub 2014 Aug 30.

Department of Neurology, Erasme Hospital, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1002/ana.24248DOI Listing
October 2014

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

Am J Hum Genet 2013 Nov 31;93(5):926-31. Epub 2013 Oct 31.

Department of Genetics, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France.

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http://dx.doi.org/10.1016/j.ajhg.2013.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824112PMC
November 2013

Mechanisms of coronary complications after the arterial switch for transposition of the great arteries.

J Thorac Cardiovasc Surg 2013 May 11;145(5):1263-9. Epub 2012 Jul 11.

Hôpital Necker-Enfants Malades, AP-HP, University Paris-Descartes, Paris, France.

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http://dx.doi.org/10.1016/j.jtcvs.2012.06.009DOI Listing
May 2013

Successful treatment of congenital hyperinsulinism with long-acting release octreotide.

Eur J Endocrinol 2012 Feb 2;166(2):333-9. Epub 2011 Nov 2.

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker-Enfants Malades, AP-HP, Université Paris Descartes, 149 Rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1530/EJE-11-0874DOI Listing
February 2012

Safety and accuracy of 64-slice computed tomography coronary angiography in children after the arterial switch operation for transposition of the great arteries.

JACC Cardiovasc Imaging 2008 May;1(3):331-9

University Rene Descartes-Paris V, UFR Necker-Enfants Malades, Department of Pediatric Radiology, 149 rue de Sèvres, Paris Cedex 15, France.

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http://dx.doi.org/10.1016/j.jcmg.2008.02.005DOI Listing
May 2008

Dramatic efficacy improvement of a DC-based vaccine against AML by CD25 T cell depletion allowing the induction of a long-lasting T cell response.

Cancer Immunol Immunother 2009 Oct 19;58(10):1669-77. Epub 2009 Feb 19.

Département d'Immunologie, Institut Cochin, Institut National de la Santé Et de la Recherche Médicale (INSERM) U 567, Centre National de Recherche Scientifique (CNRS) UMR 8104, Université René Descartes, Paris V, France.

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http://dx.doi.org/10.1007/s00262-009-0678-7DOI Listing
October 2009

Selective iron chelation in Friedreich ataxia: biologic and clinical implications.

Blood 2007 Jul 22;110(1):401-8. Epub 2007 Mar 22.

Pediatric Radiology Unit, Institut National de la Santé et de la Recherche Médicale, Hôpital Necker Enfants Malades, Université Paris V René Descartes, Paris, France.

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http://dx.doi.org/10.1182/blood-2006-12-065433DOI Listing
July 2007

Cutaneous adverse events in renal transplant recipients receiving sirolimus-based therapy.

Transplantation 2005 Feb;79(4):476-82

Service de Dermatologie, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1097/01.tp.0000151630.25127.3aDOI Listing
February 2005