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  • Influence
Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.
TLDR
Recombinant alpha-galactosidase A replacement therapy cleared microvascular endothelial deposits of globotriaosylceramide from the kidneys, heart, and skin in patients with Fabry's disease, reversing the pathogenesis of the chief clinical manifestations of this disease. Expand
High incidence of later-onset fabry disease revealed by newborn screening.
TLDR
The results suggest that the later-onset phenotype of Fabry disease is underdiagnosed among males with cardiac, cerebrovascular, and/or renal disease and raises ethical issues related to when screening should be performed--in the neonatal period or at early maturity, perhaps in conjunction with screening for other treatable adult-ONSet disorders. Expand
Recommendations for the Diagnosis and Treatment of the Acute Porphyrias
TLDR
The panel, which represents specialties including internal medicine, pediatrics, genetics, gastroenterology, hepatology, and hematology, was charged with formulating updated recommendations for diagnosing and treating the acute porphyrias, issued recommendations based on the specific enzyme and gene defects identified. Expand
A pharmacogenetic versus a clinical algorithm for warfarin dosing.
TLDR
Genotype-guided dosing of warfarin did not improve anticoagulation control during the first 4 weeks of therapy and there was a significant interaction between dosing strategy and race. Expand
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease.
TLDR
Long-term agalsidase beta therapy stabilizes renal function in patients without renal involvement at baseline, maintains reduction of plasma GL-3, and sustainsGL-3 clearance in capillary endothelial cells and multiple renal cell types. Expand
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.
TLDR
All 112 liver biopsied patients had the characteristic pathology, which is progressive, and includes microvesicular steatosis, which leads to fibrosis, micronodular cirrhosis, and ultimately to liver failure. Expand
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
Acid sphingomyelinase deficient mice: a model of types A and B Niemann–Pick disease
TLDR
Analysis of the ASM deficient mice showed their tissues had no detectable ASM activity, the blood cholesterol levels and sphingomyelin in the liver and brain were elevated, and atrophy of the cerebellum and marked deficiency of Purkinje cells was evident. Expand
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
TLDR
Recommendations detailed here have been incorporated into a joint ACMG/ACOG/NIH Steering Committee document entitled “Preconceptual and Prenatal Carrier Screening for Cystic Fibrosis” which will be widely distributed. Expand
Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency
TLDR
It is suggested that cathepsin K is a major protease in bone resorption, providing a possible rationale for the treatment of disorders such as osteoporosis and certain forms of arthritis. Expand
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