Hernan Amartino

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.

Orphanet J Rare Dis 2019 Jun 13;14(1):137. Epub 2019 Jun 13.

Center for Rare Diseases at Host Schmidt Kliniken, Wiesbaden, Germany and Department of Paediatrics University of Padova, Padova, Italy.

Orphanet J Rare Dis 2019 05 29;14(1):118. Epub 2019 May 29.

Center for Rare Diseases at Host Schmidt Kliniken, Wiesbaden, Germany and Department of Paediatrics, University of Padova, Padova, Italy.

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

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

PLoS One 2018 1;13(2):e0191228. Epub 2018 Feb 1.

Consultorio de Neurogenética, Centro Universitario de Neurologia y Division Neurologia, Hospital J.M.Ramos Mejia, Facultad de Medicina, UBA, Buenos Aires, Argentina.

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

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

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

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

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

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

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.).

Mol Genet Metab 2017 09 20;122(1-2):18-32. Epub 2017 Aug 20.

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Center for Translational Science, Children's National Medical Center, Washington, DC, USA; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. Electronic address:

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.

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

J Inherit Metab Dis 2016 Mar 16;39(2):243-52. Epub 2015 Oct 16.

Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

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.

JIMD Rep 2014 22;16:7-14. Epub 2014 May 22.

Laboratorio Neuroquímica Dr Chamoles (FESEN), Buenos Aires, Argentina,

Medicina (B Aires) 2013 ;73(5):482-94

Hospital Italiano de La Plata. E-mail:

Genet Mol Biol 2014 Jun;37(2):315-29

Hospital Universitario Austral , Buenos Aires , Argentina .

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.

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,

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

Departamento de Pediatría, Hospital Alemán.

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.

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

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

Epilepsia 2012 Jul 17;53(7):1156-61. Epub 2012 Apr 17.

Department of Neurology, Juan P. Garrahan Pediatric Hospital, Buenos Aires, Argentina.

Gene 2012 May 13;499(2):262-5. Epub 2012 Mar 13.

Regional Coordinator Centre for Rare Disease, University Hospital Santa Maria della Misericordia, Udine, Italy.

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

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

J Child Neurol 2008 Feb;23(2):205-15

Children's National Medical Center, Children's Research Institute, Center for Genetic Medicine, Washington, DC 20010, USA.

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

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

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

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

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

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