Emery and Rimoin's principles and practice of medical genetics and genomics. Metabolic disorders /

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"In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomi...

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Détails bibliographiques
Cote:Libro Electrónico
Autres auteurs: Pyeritz, Reed E. (Éditeur intellectuel), Korf, Bruce R. (Éditeur intellectuel), Grody, Wayne W. (Éditeur intellectuel)
Format: Électronique eBook
Langue:Inglés
Publié: London, United Kingdom : Elsevier/Academic Press, [2021]
Édition:Seventh edition.
Sujets:
Medical genetics.
Genetic disorders.
Genomics.
Genetics, Medical
Genetic Diseases, Inborn
Genomics
G�en�etique m�edicale.
Maladies g�en�etiques.
G�enomique.
Genetic disorders
Medical genetics
Accès en ligne:Texto completo
Table des matières:
  • Disorders of the body mass
  • Genetic lipodystrophies
  • Amino acid metabolism
  • Disorders of carbohydrate metabolism
  • Disorders affecting glycosylation
  • Purine and pyrimidine metabolism
  • Lipoprotein and lipid metabolism
  • Organic acidemias and disorders of fatty acid oxidation
  • Vitamin d metabolism or action
  • Inherited porphyrias
  • Inherited disorders of human copper metabolism
  • Iron metabolism and related disorders
  • Mucopolysaccharidoses
  • Lysosomal storage disorders
  • Peroxisomal disorders
  • Genetics of mitochondrial respiratory chain disease.

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