Hernan Amartino

Hernan Amartino

UNVERIFIED PROFILE

Are you Hernan Amartino?   Register this Author

Register author
Hernan Amartino

Hernan Amartino

Publications by authors named "Hernan Amartino"

Are you Hernan Amartino?   Register this Author

29Publications

1040Reads

17Profile Views

Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years.

Ann Hum Genet 2019 Aug 16. Epub 2019 Aug 16.

Neurogenetic Section, Neurology Department, Hospital J.M. Ramos Mejía, CABA, Centro Universitario de Neurología, Facultad de Medicina, Universidad de Buenos Aires, Buenos Aires, Argentina.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1111/ahg.12345
Publisher Site
http://dx.doi.org/10.1111/ahg.12345DOI Listing
August 2019

Switch from agalsidase beta to agalsidase alfa in the enzyme replacement therapy of patients with Fabry disease in Latin America.

Medicina (B Aires) 2017 ;77(3):173-179

Centro de Estudio de Enfermedades Lisosomales, Hospital Nacional Prof. Dr. Alejandro Posadas, Haedo, Argentina. E-mail:

View Article

Download full-text PDF

Source
August 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.

View Article

Download full-text PDF

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

Practical management of behavioral problems in mucopolysaccharidoses disorders.

Mol Genet Metab 2017 12 27;122S:35-40. Epub 2017 Sep 27.

Department of Child Neurology, Hospital Universitario Austral, Buenos Aires, Argentina.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.09.010DOI Listing
December 2017

Epilepsy in mucopolysaccharidosis disorders.

Mol Genet Metab 2017 12 16;122S:55-61. Epub 2017 Oct 16.

Department of Child Neurology, Hospital Universitario Austral, Buenos Aires, Argentina.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.10.006DOI Listing
December 2017

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.

N Engl J Med 2017 10 4;377(17):1630-1638. Epub 2017 Oct 4.

From Massachusetts General Hospital and Harvard Medical School (F.E., P.L.M.), Dana-Farber and Boston Children's Cancer and Blood Disorders Center (C. Duncan, M.A., C. Dansereau, D.A.W.), and Boston Children's Hospital, Harvard Medical School, and Harvard Stem-Cell Institute (D.A.W.), Boston, and Bluebird Bio, Cambridge (A.M.P., E.S., T.O., D.D.) - all in Massachusetts; University of Minnesota Children's Hospital, Minneapolis (P.J.O., T.C.L., W.P.M., G.V.R.); University of California, Los Angeles, Los Angeles (S.D.O., R.S., A.J.S.); University College London Great Ormond Street Hospital Institute of Child Health and Great Ormond Street Hospital NHS Trust, London (A.J.T., H.B.G., P.G.); Pediatric Neurology Department, Hôpital Bicêtre-Hôpitaux Universitaires Paris Sud, Le Kremlin Bicêtre, France (C.S., P.A.); Fundacion Investigar, Buenos Aires (H.A.); and Women's and Children's Hospital, North Adelaide, SA, Australia (D.B., N.J.C.S.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1700554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5708849PMC
October 2017

Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina.

Mol Genet Metab Rep 2017 Jun 4;11:65-68. Epub 2017 May 4.

GADYTEF (Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Fabry), Argentina.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S22144269163013
Publisher Site
http://dx.doi.org/10.1016/j.ymgmr.2017.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423300PMC
June 2017

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

N Engl J Med 2016 Aug;375(6):545-55

From the Division of Medical Genetics, University of Versailles, Paris-Saclay University, Versailles, and Assistance Publique-Hôpitaux de Paris, Paris - both in France (D.P.G.); the Department of Academic Haematology, Royal Free and University College Medical School, London (D.A.H.), Salford Royal NHS Foundation Trust, Salford (A.J.), and University of Sunderland, Sunderland (S.W.) - all in the United Kingdom; the Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC (K. Nicholls), and the Metabolic Clinic, Women's and Children's Hospital, Adelaide, SA (D.B.) - both in Australia; the Clinical Research Division, Hôpital du Sacré-Coeur, Montreal (D.G.B.); Medical Genetics Service, Clinic Hospital of Porto Alegre, Porto Alegre (R.G.), and Hospital das Clínicas Faculdade de Medicina da Universidade de São Paulo-Ribeirão Preto, Ribeirão Preto (C.M.L.) - both in Brazil; the Departments of Human Genetics (W.R.W., S.P.S.) and Ophthalmology (S.P.S.), Emory University School of Medicine, Atlanta; the Dermatology Unit, University of Parma, Parma, Italy (C.F.); the Faculty of Medicine, Department and Laboratory of Pediatric Metabolic Disorders, Gazi University, Ankara, Turkey (F.E.); the Department of Pediatrics, Hospital Alemán, Buenos Aires (H.A.); the Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen (U.F.-R.); Infusion Associates, Grand Rapids, MI (K. Nedd); the Faculty of Medicine, Kasr El Ainy Hospital, Cairo (U.S.E.D.); New York Presbyterian Hospital, New York (M.B.); the Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, and Northwestern University Feinberg School of Medicine, Chicago (J. Charrow); the Department of Urology, University of Kansas Medical Center, Kansas City (M.D., A.T.); Children's Hospital of Pittsburgh, Pittsburgh (D.F.); Hospital Miguel Servet, Zaragoza (P.G.), and Fundacio Puigvert, Universidad Autónoma de Barcelona, Barcelona (R.T.) - both in Spain; O & O Alpa

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1510198DOI Listing
August 2016

Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.

Mol Genet Metab 2014 Sep-Oct;113(1-2):84-91. Epub 2014 Jul 16.

Genzyme, a Sanofi company, 500 Kendall Street, Cambridge, MA 02142, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2014.07.014DOI Listing
June 2015

Timing of diagnosis of patients with Pompe disease: data from the Pompe registry.

Am J Med Genet A 2013 Oct 30;161A(10):2431-43. Epub 2013 Aug 30.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36110DOI Listing
October 2013

Utility of rare disease registries in latin america.

JIMD Rep 2011 25;1:111-5. Epub 2011 Jun 25.

Fabry Registry Brazil, Latin America Fabry, Gaucher, MPS I and Pompe Registries, Universidade Federal de São Paulo, São Paulo, Brazil,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2011_25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509820PMC
February 2013

[Alrternating hemiplegia of childhood: a case report and literature review].

Arch Argent Pediatr 2012 Oct;110(5):e86-90

Departamento de Pediatría, Hospital Alemán.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5546/aap.2012.e86DOI Listing
October 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.

View Article

Download full-text PDF

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

[Enzyme replacement therapy in the infantile form of Pompe disease: Argentinean experience in a seven-year follow up case].

Arch Argent Pediatr 2012 Aug;110(4):323-7

Departamento de Pediatría, Hospital Alemán, Ciudad Autónoma de Buenos Aires, Argentina.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5546/aap.2012.323DOI Listing
August 2012

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

Eur J Hum Genet 2008 Aug 27;16(8):875-9. Epub 2008 Feb 27.

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2008.34DOI Listing
August 2008

Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.

Neuromuscul Disord 2007 Jan 23;17(1):16-22. Epub 2006 Oct 23.

Molecular Genetic Analysis Group, Genzyme Corporation, Framingham, MA 01701, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2006.09.004DOI Listing
January 2007

Fabry disease: a study of 6 hemizygous men and 5 heterozygous women with emphasis on dermatologic manifestations.

Arch Dermatol 2004 Dec;140(12):1440-6

Pediatric Dermatology Department, Ramos Mejía Hospital, Buenos Aires, Argentina.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archderm.140.12.1440DOI Listing
December 2004

Benign familial infantile seizures: further delineation of the syndrome.

J Child Neurol 2002 Sep;17(9):696-9

Servicio de Neurologia, Hospital Nacional de Pediatria Profesor Juan P. Garrahan, Buenos Aires, Argentina.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/088307380201700909DOI Listing
September 2002