Description |
xiv, 373 pages : illustrations |
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regular print |
Contents |
Nucleic acids and protein structure and function -- Fragile X syndrome -- Sickle cell anemia -- Osteogenesis imperfecta -- ₁-Antitrypsin deficiency -- Cardiac troponin: clinical role in the diagnosis of myocardial infarction -- Hereditary spherocytosis -- Fuel metabolism and energetics -- Pyruvate dehydrogenase complex deficiency -- Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): a case of mitochondrial disease -- Systemic carnitine deficiency: a treatable disorder -- Neonatal hypoglycemia and the importance of gluconeogenesis -- Intermediary metabolism -- Glucose 6-phosphate dehydrogenase deficiency and oxidative hemolysis -- Biotinidase deficiency: a biotin-responsive disorder -- Adrenoleukodystrophy -- Low-density lipoprotein receptors and familial hypercholesterolemia -- Tangier disease: a disorder in the reverse cholesterol transport pathway -- Gaucher disease: a sphingolipidosis -- I-cell disease (mucolipidosis II) -- Inborn errors of urea synthesis -- Phenylketonuria -- HMG-CoA lyase deficiency -- Hyperhomocysteinemia -- Neonatal hyperbilirubinemia -- Digestion, absorption, and nutritional biochemistry -- Obesity: a growing problem -- Protein-energy malnutrition -- Lactose intolerance -- Pancreatic insufficiency secondary to chronic pancreatitis -- Abetalipoproteinemia -- Vitamin B₁₂ deficiency -- Vitamin A deficiency in children -- Calcium-deficiency rickets -- Hereditary hemochromatosis -- Endocrinology and integration of metabolism -- Type I diabetes mellitus -- Congenital adrenal hyperplasia: P450c21 steroid hydroxylase deficiency |
Notes |
Formerly CIP. Uk |
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Previous ed.: 1997 |
Bibliography |
Includes bibliographical references and index |
Subject |
Clinical biochemistry -- Case studies.
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Clinical biochemistry.
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Biochemistry.
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Clinical Laboratory Techniques.
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Metabolic Diseases.
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Genre/Form |
Case Reports.
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Case studies.
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Author |
Glew, Robert H.
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Rosenthal, Miriam D.
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LC no. |
2005054659 |
ISBN |
0195176871 (hbk.) |
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019517688X (paperback) |
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9780195176872 (hbk.) |
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9780195176889 (paperback) |
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