Inherited Metabolic DiseasesGeorg Friedrich Hoffmann Lippincott Williams & Wilkins, 2002 - 435 páginas This pocket size clinical reference provides concise information on diagnosis and management of inherited metabolic diseases. Topics in this handy guide cover approaches to metabolic diseases, specialized investigations of metabolic diseases, functional tests and additional diagnostic procedures, a system and symptom based approach to patients, and commonalities of therapy. Numerous tables and figures provide rapid access to individual items aiding in diagnostic and therapeutic decisions. This valuable resource is a useful tool for pediatricians, internists, neurologists, and clinical geneticists. Compatibility: BlackBerry(R) OS 4.1 or Higher / iPhone/iPod Touch 2.0 or Higher /Palm OS 3.5 or higher / Palm Pre Classic / Symbian S60, 3rd edition (Nokia) / Windows Mobile(TM) Pocket PC (all versions) / Windows Mobile Smartphone / Windows 98SE/2000/ME/XP/Vista/Tablet PC |
Índice
I | 7 |
II | 9 |
III | 9 |
IV | 11 |
V | 23 |
VI | 24 |
VII | 81 |
IX | 87 |
XVII | 183 |
XVIII | 207 |
XX | 220 |
XXI | 230 |
XXII | 256 |
XXIII | 260 |
XXIV | 271 |
XXV | 284 |
X | 102 |
XI | 115 |
XII | 120 |
XIII | 146 |
XIV | 155 |
XV | 163 |
XVI | 167 |
XXVII | 295 |
XXVIII | 301 |
XXIX | 311 |
XXX | 320 |
XXXII | 326 |
XXXIII | 336 |
Otras ediciones - Ver todo
Inherited Metabolic Diseases: A Clinical Approach Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan Vista previa restringida - 2009 |
Inherited Metabolic Diseases: A Clinical Approach Georg Friedrich Hoffmann,Johannes Zschocke,William L. Nyhan No hay ninguna vista previa disponible - 2010 |
Términos y frases comunes
3-hydroxybutyrate abnormalities acidosis acute acyl-CoA dehydrogenase acylcarnitines alanine amino acids ammonia anemia assay ataxia biopsy blood carboxylase cardiac cardiomyopathy carnitine cataracts cause chronic clinical concentrations congenital defects diagnosis disorders of fatty dysfunction elevated enzyme episodes excretion fasting fatty acid oxidation fibroblasts fructose galactosemia gene genetic glucagon glucose glycogen storage disease glycogenosis hepatic hepatomegaly homocystinuria hyperammonemia hypoglycemia inborn errors infants infection inherited metabolic diseases investigations ketones kinase laboratory lactate lactic acidemia levels liver disease long-chain lysosomal manifestations MCAD metabolic disorders metabolites methylmalonic aciduria mitochondrial disorders muscle mutations myopathy neonatal neurologic normal occur organic acid analysis organic acids organic acidurias orotic orotic acid oxidase patients peroxisomal disorders phenylalanine phosphorylase plasma porphyria present propionic aciduria protein purine pyrimidine pyruvate renal sample serum skin specific storage disorders symptoms syndrome synthetase Table tion tissue transport treatment tyrosinemia type urea cycle urinary organic acids urine usually Wilson disease work-up
Referencias a este libro
Mitochondrial Medicine: Mitochondrial Metabolism, Diseases, Diagnosis and ... Anna Gvozdjáková Vista previa restringida - 2008 |