'Gsd' presentation slideshows

Treatment of Inherited Metabolic Diseases

Treatment of Inherited Metabolic Diseases. Robin Casey, MD Pediatric Resident Teaching 12 May 2011. Overview of Inherited Metabolic Disease. over 700 separate IEM described most present early: in utero 8 % birth - 1 yr 55 % 1 yr-puberty 32 % adulthood 5 %

871 views • 66 slides

Treatment of Inherited Metabolic Diseases

Treatment of Inherited Metabolic Diseases. Robin Casey, MD Pediatric Resident Teaching 12 May 2011. Overview of Inherited Metabolic Disease. over 700 separate IEM described most present early: in utero 8 % birth - 1 yr 55 % 1 yr-puberty 32 % adulthood 5 %

1.08k views • 66 slides

Partnership Program for Spring Leaf-Off Imagery

526 views • 52 slides

Overview of Inherited Metabolic Disorders

Overview of Inherited Metabolic Disorders. Pediatric Resident Academic Half Day. Outline. Overview of genetic / metabolic diseases Overview of cell metabolism Amino acids Glucose homeostasis Fatty acids Complex molecule biosynthesis & degradation Energy metabolism

2.11k views • 49 slides

Case Histories

Case Histories. Case 1: Positive Newborn Metabolic Screen. History : NMS test result shows elevated Phenylalanine (0.75 umole/l; normal <0.125) Term pregnancy Normal P/L/D BWt 3.1 kg, Normal neonatal course Questions:

659 views • 47 slides

RESEARCH PROJECT: GLYCOGEN STORAGE DISEASE TYPE I AND ATHEROSCLEROSIS

RESEARCH PROJECT: GLYCOGEN STORAGE DISEASE TYPE I AND ATHEROSCLEROSIS. a multicentre study. BACKGROUND. Glycogen storage disease (GSD) type I is characterized by hypoglycaemia, hyperuricemia, hyperlactatemia and hyperlipidemia

340 views • 13 slides

Distributed Dynamic Diversity Databases for Life

4D4Life 2nd General Meeting, 15-18 february 2010, Faro, Portugal. Distributed Dynamic Diversity Databases for Life. WP3 Strenghtening the GSD Network: A Virtual Community. Day 2 - General Meeting. WP3 Description of work.

208 views • 6 slides