Atlas of Inherited Metabolic Diseases With Digital Download.

Detalles Bibliográficos
Clasificación:Libro Electrónico
Formato: Electrónico eBook
Idioma:Inglés
Publicado: CRC Pr I Llc 2017.
Temas:
Metabolism > Disorders > Atlases.
Metabolism, Inborn errors of > Atlases.
Metabolic disorders in children > Atlases.
Troubles du métabolisme > Atlas.
Maladies métaboliques congénitales > Atlas.
Troubles du métabolisme chez l'enfant > Atlas.
Metabolic disorders in children
Metabolism > Disorders
Metabolism, Inborn errors of
Scientific atlases
Acceso en línea:Texto completo
Tabla de Contenidos:
  • Cover
  • Half Title
  • Title Page
  • Copyright Page
  • Contents
  • Preface by William L. Nyhan
  • Preface by Georg F. Hoffmann
  • Contributors
  • Part 1: Organic acidemias
  • 1. Introduction to the organic acidemias
  • 2. Propionic acidemia
  • Introduction
  • Clinical abnormalities
  • Genetics and pathogenesis
  • Treatment
  • References
  • 3. Methylmalonic acidemia
  • Introduction
  • Clinical abnormalities
  • Genetics and pathogenesis
  • Treatment
  • References
  • 4. Cobalamin C, D, F, G diseases
  • methylmalonic aciduria and variable homocystinuria
  • Introduction
  • Clinical abnormalities
  • Genetics and pathogenesis
  • Treatment
  • References
  • 5. The methylmalonic malonic aciduria of deficiency of AcylCoA synthetase (ACSF3)
  • Introduction
  • Clinical abnormalities
  • Genetics and pathogenesis
  • Treatment
  • References
  • 6. Multiple carboxylase deficiency/holocarboxylase synthetase deficiency
  • Introduction
  • Clinical abnormalities
  • Genetics and pathogenesis
  • Treatment
  • References
  • 7. Multiple carboxylase deficiency/biotinidase deficiency
  • Introduction
  • Clinical abnormalities
  • Genetics and pathogenesis
  • Treatment
  • References
  • 8. Isovaleric acidemia
  • Introduction
  • Clinical abnormalities
  • Genetics and pathogenesis
  • Treatment
  • References
  • 9. Glutaric aciduria (type I)
  • Introduction
  • Clinical abnormalities
  • Genetics and pathogenesis
  • Treatment
  • References
  • 10. 3-MethylcrotonylCoA carboxylase deficiency/3-methylcrotonylglycinuria
  • Introduction
  • Clinical abnormalities
  • Genetics and pathogenesis
  • Treatment
  • References
  • 11. D-2-hydroxyglutaric (DL-2-hydroxyglutaric) aciduria
  • Introduction
  • Clinical abnormalities
  • Genetics and pathogenesis
  • Treatment
  • References
  • 12. L-2-hydroxyglutaric aciduria
  • Introduction
  • Clinical abnormalities
  • Genetics and pathogenesis
  • Treatment
  • References
  • 13. 4-Hydroxybutyric aciduria
  • Introduction
  • Clinical abnormalities
  • Genetics and pathogenesis
  • Treatment
  • References
  • Part 2: Disorders of amino acid metabolism
  • 14. Alkaptonuria
  • Introduction
  • Clinical abnormalities
  • Genetics and pathogenesis
  • Treatment
  • References
  • 15. Phenylketonuria
  • Introduction
  • Clinical abnormalities
  • Genetics and pathogenesis
  • Diagnosis
  • Treatment
  • Maternal PKU
  • References
  • 16. Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin
  • Introduction
  • Clinical abnormalities
  • Genetics and pathogenesis
  • Diagnosis
  • Treatment
  • References
  • 17. Biogenic amines
  • Aromatic L-amino acid decarboxylase deficiency
  • Introduction
  • Clinical abnormalities
  • Psychiatric disorders in carriers
  • Genetics and pathogenesis
  • Treatment
  • Tyrosine hydroxylase deficiency
  • Introduction
  • Clinical abnormalities
  • Genetics and pathogenesis
  • Treatment
  • Dopamine transporter deficiency syndrome
  • Introduction
  • Clinical abnormalities

Ejemplares similares