'J inherit metab dis' diaporamas de présentation

Morquio A Disease Overview

1.02k views • 56 slides

ICIEM 2006

ICIEM 2006. Double Blind Placebo Control Trial in PKU with NeoPhe. Reuben Matalon 1 , Kimberlee Michals-Matalon 1 , Alberto Burlina 2 , Alesandro Burlina 2 , Marcello Giovannini 3 , Laura Fiori 3 , Elena Grechanina 4 , Peter Novikov 5 , James Grady 1 , Stephen Tyring 6 , Flemming Guttler 7

535 views • 40 slides

Confirmatory Testing Considerations

Confirmatory Testing Considerations. Beth Vogel, MS, CGC Genetic Counselor Newborn screening program Wadsworth center New york state department of health. Overview. Implementation Short-term follow-up Case review meetings Diagnostic testing. Implementation: Guidance.

505 views • 29 slides

RENAL INVOLVEMENT IN FABRY DISEASE

RENAL INVOLVEMENT IN FABRY DISEASE. Sandro Feriozzi Nephrology and Dialysis AUSL/VT Italy. BIOCHIMICA & GENETICA. Bishop PNAS 1988. GENETICA. TRASMISSIONE IPOTESI DI LYON.

820 views • 25 slides

Spinal involvement in Morquio A

Spinal involvement in Morquio A . Atlantoaxial system: anatomy and pathology . Articulation of C1 (atlas) with C2 (axis) is complex, comprising several joints Median atlantoaxial joint Two lateral atlantoaxial joints These joints are held in place and supported by several ligaments

342 views • 20 slides

Fumarase Deficiency

PHM142 Fall 2012 Instructor: Dr. Jeffrey Henderson. Fumarase Deficiency. Presentation By: Claire Hooper, Paul Gillespie, Jackie Brunton , and Jacob Cashin. Focus. Introduction & History. Clinical Features & Diagnosis. Structure & Pathophysiology. Summary & Conclusion.

1.43k views • 18 slides

Hunter Syndrome

3.98k views • 17 slides