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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors

Terme préférentiel

Amino Acid Metabolism, Inborn Errors  

Type

  • mesh:Descriptor

Définition

  • Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.

Concept générique

Concepts spécifiques

Synonyme(s)

  • Amino Acid Metabolism Disorders, Inborn
  • Amino Acid Metabolism, Inborn Error
  • Amino Acidopathies, Congenital
  • Amino Acidopathies, Inborn
  • Congenital Amino Acidopathies
  • Inborn Errors, Amino Acid Metabolism

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-TCJF0LFV-G

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 05/07/2006