소장자료

Ornithine Transcarbamylase Basic Science And Clinical Considerations [electronic resource] :

  • Snodgrass, Philip J. author.
  • 2004
Ornithine Transcarbamylase Basic Science And Clinical Considerations [electronic resource] :
  • 자료유형
    단행본
  • 서명/저자사항
    Ornithine Transcarbamylase[electronic resource] :Basic Science And Clinical Considerations / by Philip J. Snodgrass.
  • 개인저자
    Snodgrass, Philip J., author.
  • 단체저자
    SpringerLink (Online service)
  • 형태사항
    XVII, 243 p. : online resource.
  • 내용주기
    1 Gene Structure, Regulation and Function -- 2 Synthesis, Processing and Assembly -- 3 Molecular and Kinetic Characteristics -- 4 Active Site and Other Essential Residues -- 5 Molecular Pathology of OTC Deficiency -- 6 Animal Models of OTC Deficiency and Their Gene Therapy -- Sparse-fur mutant mouse -- Sparse-furash mutant mouse -- Gene therapy of mutant mice -- 7 Clinical and Laboratory Findings in OTC Deficiency -- OTC deficiency in females -- OTC deficiency in males -- Plasma amino acid levels in OTC deficiency -- Plasma amino acid levels from the literature -- Case series of OTC deficiency from the literature -- Symptoms of OTC deficiency precipitated by valproic acid -- Rett syndrome and hyperammonemia -- 8 Diagnosis and Treatment of OTC Deficiency -- Diagnosis -- Loading tests -- Neuroimaging, EEG and pathology in liver and brain -- Treatment -- Gene replacement therapy -- 9 Induction and Suppression of OTC and Urea Cycle Enzymes in Bacteria, Fungi and Mammals -- Development of fetal and neonatal OTC and urea cycle enzymes -- References -- Biographical Note.
  • 일반주제명
    Life sciences.
    Human genetics.
    Internal medicine.
    Pediatrics.
    Biochemistry.
    Life Sciences.
    Biochemistry, general.
    Human Genetics.
    Internal Medicine.
    Pediatrics.
  • 기본자료 저록
    Springer eBooks
  • 기타형태 저록
    Printed edition: 9781402076831
  • ISBN
    9781441990624
  • 언어
    영어