Medical School

  • U.I.S Colombia , 1991 , Bucaramanga, Santander , Columbia


  • Maimonides Medical Center , 1996 , Brooklyn , NY


  • Maimonides Medical Center , 1998 , Brooklyn , NY


  • Dana Farber Cancer Institute/Harvard Medical School , 1995 , Boston , MA


  • Boston Children's Hospital , 2001 , Boston , MA


  • American Board of Medical Genetics and Genomics, Clinical Genetics


Publications powered by Harvard Catalyst Profiles

  1. Long-Term Retrospective Analysis of Gene Therapy with Alipogene Tiparvovec and Its Effect on Lipoprotein Lipase Deficiency-Induced Pancreatitis. Hum Gene Ther. 2016 11; 27(11):916-925. View abstract
  2. The treatment patterns, efficacy, and safety of nab (®)-paclitaxel for the treatment of metastatic breast cancer in the United States: results from health insurance claims analysis. BMC Cancer. 2015 Dec 29; 15:1019. View abstract
  3. Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency. J Clin Lipidol. 2016 Mar-Apr; 10(2):394-409. View abstract
  4. Treatment of metastatic breast cancer with ??????-paclitaxel in the community practice setting: a US Oncology survey. J Community Support Oncol. 2015 May; 13(5):173-80. View abstract
  5. Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome. Eur J Hum Genet. 2014 Apr; 22(4):464-70. View abstract
  6. The cost-effectiveness of initial treatment of multiple myeloma in the U.S. with bortezomib plus melphalan and prednisone versus thalidomide plus melphalan and prednisone or lenalidomide plus melphalan and prednisone with continuous lenalidomide maintenance treatment. Oncologist. 2013; 18(1):27-36. View abstract
  7. Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study. Neuromuscul Disord. 2010 Dec; 20(12):775-82. View abstract
  8. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med. 2010 Apr 15; 362(15):1396-406. View abstract
  9. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res. 2009 Sep; 66(3):329-35. View abstract
  10. Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker. Genet Med. 2009 Jul; 11(7):536-41. View abstract
  11. Identification of critical regions for clinical features of distal 10q deletion syndrome. Clin Genet. 2009 Jul; 76(1):54-62. View abstract
  12. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009 Mar; 11(3):210-9. View abstract
  13. Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve. 2008 Oct; 38(4):1236-45. View abstract
  14. Sibling phenotype concordance in classical infantile Pompe disease. . 2007 Nov 01; 143A(21):2493-501. View abstract
  15. Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series. Paediatr Anaesth. 2007 Aug; 17(8):738-48. View abstract
  16. Fractures in children with Pompe disease: a potential long-term complication. Pediatr Radiol. 2007 May; 37(5):437-45. View abstract
  17. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. Mol Genet Metab. 2007 Apr; 90(4):449-52. View abstract
  18. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007 Jan 09; 68(2):99-109. View abstract
  19. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2006 Jul; 149(1):89-97. View abstract
  20. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006 May; 148(5):671-676. View abstract
  21. A computer adaptive testing approach for assessing physical functioning in children and adolescents. Dev Med Child Neurol. 2005 Feb; 47(2):113-20. View abstract
  22. Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease. Pediatrics. 2004 Oct; 114(4):e532-5. View abstract
  23. Enhancement in immune function and growth using E-JUR-94013 supplementation. Methods Find Exp Clin Pharmacol. 2002 Nov; 24(9):573-8. View abstract
  24. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. Am J Hum Genet. 2002 Jun; 70(6):1520-31. View abstract
  25. Double-blind, randomized, placebo-controlled pilot study with anapsos in senile dementia: effects on cognition, brain bioelectrical activity and cerebral hemodynamics. Methods Find Exp Clin Pharmacol. 2000 Sep; 22(7):585-94. View abstract
  26. Tumor necrosis factor constellation polymorphism and clozapine-induced agranulocytosis in two different ethnic groups. Blood. 1997 Jun 01; 89(11):4167-74. View abstract
  27. Citicoline improves memory performance in elderly subjects. Methods Find Exp Clin Pharmacol. 1997 Apr; 19(3):201-10. View abstract
  28. The major histocompatibility complex region marked by HSP70-1 and HSP70-2 variants is associated with clozapine-induced agranulocytosis in two different ethnic groups. Blood. 1995 Nov 15; 86(10):3835-40. View abstract
  29. HLA associations in clozapine-induced agranulocytosis. Blood. 1995 Aug 01; 86(3):1177-83. View abstract
  30. Advances in HLA genetics. Exp Clin Immunogenet. 1995; 12(3):156-70. View abstract
  31. HSP70-2 9.0 kb variant is in linkage disequilibrium with the HLA-B and DRB1* alleles associated with clozapine-induced agranulocytosis. J Clin Psychiatry. 1994 Sep; 55 Suppl B:149-52. View abstract