Genetic and Metabolic Disease in Pediatrics

Content: 
Butterworths International Medical Reviews, Page ii
Front Matter, Page iii
Copyright, Page iv
Preface, Page v, June Lloyd, Charles Scriver
Contributors, Pages vii-viii
1 - Genetic causes of deviant metabolism. What do we know? What can we do?, Pages 1-8, Charles R. Scriver, June K. Lloyd
2 - Genes, Pages 9-35, Marcus Pembrey
3 - The human gene map, Pages 36-55, Robert S. Sparkes
4 - The molecular basis of clinical heterogeneity in osteogenesis imperfecta: Mutations in type I collagen genes have different effects on collagen processing, Pages 56-90, Peter H. Byers, Jeffrey F. Bonadio
5 - The I-Cell model: the molecular basis for abnormal lysosomal enzyme transport in mucolipidosis II and mucolipidosis III, Pages 91-110, William S. Sly, Vasantha Sundaram
6 - The lacticacidemias, Pages 111-139, Brian H. Robinson
7 - Inborn errors of urea synthesis, Pages 140-165, Saul W. Brusilow
8 - The hyperphenylalaninaemias, Pages 166-210, Isabel Smith
9 - The hyperlipidaemias, Pages 211-233, G.R. Thompson
10 - Effect of mutation on maternal—fetal metabolic homeostasis: general concepts, Pages 234-249, T.E. Stacey
11 - Effect of mutation on maternal—fetal metabolic homeostasis: maternal aminoacidopathies, Pages 250-267, Harvey L. Levy
12 - The androgen-response system in developmental health and disease, Pages 268-309, Leonard Pinsky, Morris Kaufman
Index, Pages 311-324