소장자료

Inborn Metabolic Diseases Diagnosis and Treatment [electronic resource] :

  • Fernandes, John. editor. , Saudubray, Jean-Marie. editor. , Berghe, Georges van den. editor. , Walter, John H. editor.
  • 2006
Inborn Metabolic Diseases Diagnosis and Treatment [electronic resource] :
  • 자료유형
    단행본
  • 서명/저자사항
    Inborn Metabolic Diseases[electronic resource] :Diagnosis and Treatment / edited by John Fernandes, Jean-Marie Saudubray, Georges van den Berghe, John H. Walter.
  • 판차
    Fourth, Revised Edition.
  • 개인저자
    Fernandes, John., editor., Saudubray, Jean-Marie., editor., Berghe, Georges van den., editor., Walter, John H., editor.
  • 단체저자
    SpringerLink (Online service)
  • 형태사항
    XXII, 561 p. 65 illus. : online resource.
  • 내용주기
    Diagnosis and Treatment: General Principles -- A Clinical Approach to Inherited Metabolic Diseases -- Newborn Screening for Inborn Errors of Metabolism -- Diagnostic Procedures: Function Tests and Postmortem Protocol -- Emergency Treatments -- Treatment: Present Status and New Trends -- Disorders of Carbohydrate Metabolism -- The Glycogen Storage Diseases and Related Disorders -- Disorders of Galactose Metabolism -- Disorders of the Pentose Phosphate Pathway -- Disorders of Fructose Metabolism -- Persistent Hyperinsulinemic Hypoglycemia -- Disorders of Glucose Transport -- Disorders of Mitochondrial Energy Metabolism -- Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle -- Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways -- Disorders of Ketogenesis and Ketolysis -- Defects of the Respiratory Chain -- Creatine Deficiency Syndromes -- Disorders of Amino Acid Metabolism and Transport -- Hyperphenylalaninaemia -- Disorders of Tyrosine Metabolism -- Branched-Chain Organic Acidurias/Acidemias -- Disorders of the Urea Cycle and Related Enzymes -- Disorders of Sulfur Amino Acid Metabolism -- Disorders of Ornithine Metabolism -- Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism -- Nonketotic Hyperglycinemia (Glycine Encephalopathy) -- Disorders of Proline and Serine Metabolism -- Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder -- Vitamin-Responsive Disorders -- Biotin-Responsive Disorders -- Disorders of Cobalamin and Folate Transport and Metabolism -- Neurotransmitter and Small Peptide Disorders -- Disorders of Neurotransmission -- Disorders in the Metabolism of Glutathione and Imidazole Dipeptides -- Trimethylaminuria and Dimethylglycine Dehydrogenase Deficiency -- Disorders of Lipid and Bile Acid Metabolism -- Dyslipidemias -- Disorders of Cholesterol Synthesis -- Disorders of Bile Acid Synthesis -- Disorders of Nucleic Acid and Heme Metabolism -- Disorders of Purine and Pyrimidine Metabolism -- Disorders of Heme Biosynthesis -- Disorders of Metal Transport -- Disorders in the Transport of Copper, Zinc and Magnesium -- Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems -- Disorders of Sphingolipid Metabolism -- Mucopolysaccharidoses and Oligosaccharidoses -- Peroxisomal Disorders -- Congenital Disorders of Glycosylation -- Cystinosis -- Primary Hyperoxalurias.
  • 일반주제명
    Medicine.
    Human genetics.
    Endocrinology.
    Neurology.
    Pediatrics.
    Medicine & Public Health.
    Pediatrics.
    Human Genetics.
    Endocrinology.
    Neurology.
  • 기본자료 저록
    Springer eBooks
  • 기타형태 저록
    Printed edition: 9783540287834
  • ISBN
    9783540287858
  • 언어
    영어