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- catalog contributor b11983214.
- catalog contributor b11983215.
- catalog created "c2000.".
- catalog date "2000".
- catalog date "c2000.".
- catalog dateCopyrighted "c2000.".
- catalog description "Includes bibliographical references and index.".
- catalog description "V.1. Approach to diagnosis of metabolic diseases -- Prenatal diagnosis and newborn screening -- Disorders of amino acid metabolism -- Disorders of branched-chain amino acid metabolism -- Defects of the urea cycle -- Fatty acid [beta]-oxidation defects -- Mitochondrial disorders -- Disorders of carbohydrate and glycoprotein metabolism -- Mucopolysaccharidoses -- Mucolipidoses -- Disorders of lipid metabolism -- Lysosomal storage diseases -- Disorders of nucleotide metabolism: purines and pyrimidines -- Peroxisomal disorders -- V.2. Disorders of metal metabolism -- Neuronal ceroid lipofuscinosis -- Cystic fibrosis -- Disorders of porphyrin metabolism -- Disorders of collagen metabolism -- Disorders of bilirubin metabolism -- Metabolic disorders of endocrine glands -- Metabolic cardiomyopathies -- Molecular disorders of the red blood cell and disorders of coagulation -- Genetic disorders of the renal tubule -- Genetic disorders of calcium metabolism -- Neuromuscular disorders -- Gene therapy -- Gene maps -- Appnd. I. Disorders detected by the expanded supplemental newborn screening (SNS) program -- Appnd. II. The metabolic disease autopsy -- Appnd. III. Pregnancy and fetal outcome in maternal inborn errors of metabolism -- Appnd. IV. Nutritional aids for some metabolic diseases -- Appnd. V. Diseases treated by umbilical cord blood transplantation -- Appnd. VI. Laboratories performing specialized studies -- Appnd. VII. Enzyme tests available from the laboratory of medical genetics, University of Alabama at Birmingham -- Appnd. VIII. Clinical diagnosis and treatment guide to inborn errors of metabolism.".
- catalog extent "2 v. :".
- catalog hasFormat "Metabolic diseases.".
- catalog identifier "1881299112".
- catalog isFormatOf "Metabolic diseases.".
- catalog issued "2000".
- catalog issued "c2000.".
- catalog language "eng".
- catalog publisher "Natick, Mass. : Eaton Pub.,".
- catalog relation "Metabolic diseases.".
- catalog subject "Genetic Therapy".
- catalog subject "Metabolic Diseases diagnosis".
- catalog subject "Metabolic Diseases genetics".
- catalog subject "Metabolic Diseases pathology".
- catalog subject "Metabolic Diseases therapy.".
- catalog subject "Metabolism Disorders.".
- catalog subject "RB147 .G55 2000".
- catalog subject "RC627.54 .G553 2000".
- catalog subject "WD 200 G464m 2000".
- catalog tableOfContents "V.1. Approach to diagnosis of metabolic diseases -- Prenatal diagnosis and newborn screening -- Disorders of amino acid metabolism -- Disorders of branched-chain amino acid metabolism -- Defects of the urea cycle -- Fatty acid [beta]-oxidation defects -- Mitochondrial disorders -- Disorders of carbohydrate and glycoprotein metabolism -- Mucopolysaccharidoses -- Mucolipidoses -- Disorders of lipid metabolism -- Lysosomal storage diseases -- Disorders of nucleotide metabolism: purines and pyrimidines -- Peroxisomal disorders -- V.2. Disorders of metal metabolism -- Neuronal ceroid lipofuscinosis -- Cystic fibrosis -- Disorders of porphyrin metabolism -- Disorders of collagen metabolism -- Disorders of bilirubin metabolism -- Metabolic disorders of endocrine glands -- Metabolic cardiomyopathies -- Molecular disorders of the red blood cell and disorders of coagulation -- Genetic disorders of the renal tubule -- Genetic disorders of calcium metabolism -- Neuromuscular disorders -- Gene therapy -- Gene maps -- Appnd. I. Disorders detected by the expanded supplemental newborn screening (SNS) program -- Appnd. II. The metabolic disease autopsy -- Appnd. III. Pregnancy and fetal outcome in maternal inborn errors of metabolism -- Appnd. IV. Nutritional aids for some metabolic diseases -- Appnd. V. Diseases treated by umbilical cord blood transplantation -- Appnd. VI. Laboratories performing specialized studies -- Appnd. VII. Enzyme tests available from the laboratory of medical genetics, University of Alabama at Birmingham -- Appnd. VIII. Clinical diagnosis and treatment guide to inborn errors of metabolism.".
- catalog title "Metabolic diseases : foundations of clinical management, genetics, and pathology / Enid Gilbert-Barness, Lewis A. Barness ; with foreword by John M. Opitz.".
- catalog type "text".