Genetic and metabolic disease in pediatrics /

Genetic and Metabolic Disease in Pediatrics.

Detalles Bibliográficos
Clasificación:Libro Electrónico
Otros Autores: Lloyd, June K. (June Kathleen), Scriver, Charles R.
Formato: Electrónico eBook
Idioma:Inglés
Publicado: London ; Boston : Butterworths, 1985.
Colección:Butterworths international medical reviews. Pediatrics.
Temas:
Metabolic disorders in children.
Metabolism, Inborn errors of.
Metabolism > Disorders.
Children.
Infants.
Metabolic Diseases > genetics
Metabolic Diseases
Metabolism, Inborn Errors
Child
Infant
Troubles du m�etabolisme chez l'enfant.
Maladies m�etaboliques cong�enitales.
Troubles du m�etabolisme.
Enfants.
Nourrissons.
children (people by age group)
infants.
MEDICAL > Gynecology & Obstetrics.
Metabolism > Disorders
Infants
Children
Metabolic disorders in children
Metabolism, Inborn errors of
Stofwisselingsziekten.
Kinderen.
Children > Genetic metabolic disorders.
Acceso en línea:Texto completo
Tabla de Contenidos:
  • Front Cover; Genetic and Metabolic Disease in Pediatrics; Copyright Page; Preface; Contributors; Table of Contents; Chapter 1. Genetic causes of deviant metabolism. What do we know? What can we do?; ILLUSTRATIONS OF THEMES; References; Chapter 2. Genes; INTRODUCTION; THE STRUCTURE AND FUNCTION OF GENES; VARIATION IN THE WAY GENES DETERMINE THE STRUCTURE OF FUNCTIONAL PROTEINS; MUTATIONS; GENETIC HETEROGENEITY IN INHERITED DISEASE; DIRECT ANALYSIS OF DNA IN GENETIC PREDICTION; Acknowledgements; References; Chapter 3. The human gene map; INTRODUCTION; HISTORY; METHODS OF GENE MAPPING
  • HUMAN CHROMOSOME FRAGILE SITESGENE MAPPING IN HUMAN CANCER; CLINICAL HUMAN GENE MAP; USEFUL CLINICAL MAPPING RELATIONSHIPS; References; Chapter 4. The molecular basis of clinical heterogeneity in osteogenesis imperfecta: Mutations in type I collagen genes have different effects on collagen processing; CLINICAL HETEROGENEITY OF OSTEOGENESIS IMPERFECTA; COLLAGEN PROTEIN STRUCTURE, COLLAGEN FAMILIES AND GENE STRUCTURE; COLLAGEN BIOSYNTHESIS (Figure 4.4); IDENTIFICATION OF MUTATIONS THAT AFFECT COLLAGEN METABOLISM AND STRUCTURE
  • DIAGNOSIS OF INBORN ERRORS LEADING TO LACTICACIDEMIACONCLUSION; References; Chapter 7. Inborn errors of urea synthesis; INTRODUCTION; UREA SYNTHESIS; INBORN ERRORS OF UREAGENESIS; MANAGEMENT OF PARTIAL ENZYME DEFICIENCIES; GENETICS; MEASUREMENT OF PLASMA AMMONIUM AND PLASMA AMINO ACID LEVELS; Acknowledgements; Abbreviations; References; Chapter 8. The hyperphenylalaninaemias; INTRODUCTION; BIOCHEMICAL BACKGROUND; CLINICAL ASPECTS OF INHERITED DISORDERS; Abbreviations; References; Chapter 9. The hyperlipidaemias; PLASMA LIPIDS AND LIPOPROTEINS; HYPERLIPIDAEMIA AND HYPERLIPOPROTEINAEMIA

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