Affiliation: Tulane University
- Disorders of post-squalene cholesterol biosynthesis leading to human dysmorphogenesisHans C Andersson
Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA 70112, USA
Cell Mol Biol (Noisy-le-grand) 48:173-7. 2002..This review summarizes the clinical, biochemical and molecular data in these disorders with an emphasis on understanding the pathophysiology of dysmorphogenesis...
- Desmosterolosis presenting with multiple congenital anomalies and profound developmental delayHans C Andersson
Hayward Genetics Center and Department of Pediatrics, Tulane University Medical School, New Orleans, Louisiana 70112, USA
Am J Med Genet 113:315-9. 2002..This unique patient broadens the spectrum of inborn errors of cholesterol biosynthesis and suggests additional candidate clinical phenotypes associated with abnormal cholesterol metabolism...
- Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1Hans Andersson
Hayward Genetics Center, SL 31, Tulane University Medical School, 1430 Tulane Ave, New Orleans, LA 70112, USA
Pediatrics 122:1182-90. 2008..The goal was to analyze the clinical responses to enzyme replacement therapy with alglucerase or imiglucerase in a large international cohort of children with Gaucher disease type 1...
- Emergency preparedness for genetics centers, laboratories, and patients: the Southeast Region Genetics Collaborative strategic planHans C Andersson
Hayward Genetics Center, Department of Pediatrics, Tulane University Medical School, 1430 Tulane Avenue, New Orleans, LA 70112, USA
Genet Med 13:903-7. 2011..This article describes the first steps in development of an emergency preparedness plan for individual centers...
- Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arraysMarilyn M Li
Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana 70112, USA
Am J Med Genet A 146:368-75. 2008..Both approaches can assist in the elucidation of the etiology of unexplained phenotypic differences in cases such as this one...
- Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patientsNeal J Weinreb
University Research Foundation for Lysosomal Storage Diseases, Department of Medicine, University Hospital, Tamarac, FL, USA
Semin Hematol 41:15-22. 2004..Additionally, reassessment should be performed whenever enzyme therapy dose is altered, or in case of significant clinical complication...