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Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies.

AuthorsG Gaull, J A Sturman, F Schaffner
JournalThe Journal of pediatrics (J Pediatr) Vol. 84 Issue 3 Pg. 381-90 (Mar 1974) ISSN: 0022-3476 [Print] UNITED STATES
PMID4811988 (Publication Type: Journal Article)
Chemical References
  • Homocysteine
  • Cystathionine
  • Methionine
  • Transferases
  • Transketolase
  • Hydro-Lyases
  • Pyridoxine
Topics
  • Adolescent
  • Adult
  • Amino Acid Metabolism, Inborn Errors (complications)
  • Biopsy, Needle
  • Child
  • Child, Preschool
  • Cystathionine
  • Female
  • Heterozygote
  • Homocysteine
  • Homocystinuria (drug therapy, enzymology, etiology, genetics)
  • Humans
  • Hydro-Lyases (metabolism)
  • Liver (metabolism, pathology)
  • Male
  • Methionine
  • Mitochondria, Liver
  • Pyridoxine (therapeutic use)
  • Transferases (metabolism)
  • Transketolase (metabolism)

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