| Description |
xiv, 373 pages : illustrations |
|
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 |
|
Previous ed.: 1997 |
| Bibliography |
Includes bibliographical references and index |
| Subject |
Clinical biochemistry -- Case studies.
|
|
Clinical biochemistry.
|
|
Biochemistry.
|
|
Clinical Laboratory Techniques.
|
|
Metabolic Diseases.
|
| Genre/Form |
Case Reports.
|
|
Case studies.
|
| Author |
Glew, Robert H.
|
|
Rosenthal, Miriam D.
|
| LC no. |
2005054659 |
| ISBN |
0195176871 (hbk.) |
|
019517688X (paperback) |
|
9780195176872 (hbk.) |
|
9780195176889 (paperback) |
|
