Inborn Errors of Metabolism

Clinics in Perinatology

Volumn 42, Issue 2, 2015, Pages 413-439

  El Hattab, Ayman W ^a  

^a TAWAM HOSPITAL   (United Arab Emirates)

Author keywords

Acidosis; Fatty acid oxidation; Hyperammonemia; Hypoglycemia; Metabolic; Organic acidemia; Urea cycle

Indexed keywords

4 PHENYLBUTYRIC ACID; ARGININE; BENZOIC ACID; BENZOIC ACID PLUS PHENYLACETIC ACID; BICARBONATE; BIOTIN; CARGLUMIC ACID; CARNITINE; CITRULLINE; COBAMAMIDE; DEXTROMETHORPHAN; FELBAMATE; GLUCOSE; GLYCINE; HYDROXOCOBALAMIN; INSULIN; INTRALIPID; ISOLEUCINE; KETAMINE; NITISINONE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE; THIAMINE; TRIACYLGLYCEROL; VALINE;

ABNORMAL URINE ODOR; ACIDEMIA; BIOTINIDASE DEFICIENCY; CARDIOMYOPATHY; CLINICAL FEATURE; CONTINUOUS INFUSION; DIET RESTRICTION; DIET THERAPY; DISORDERS OF CARBOXYLIC ACID METABOLISM; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; ENZYME ANALYSIS; FACE DISORDER; FATTY ACID OXIDATION; FETUS HYDROPS; FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY; GALACTOSEMIA; GENETIC SCREENING; GLYCINE ENCEPHALOPATHY; GLYCOGEN STORAGE DISEASE TYPE 1; GLYCOGEN STORAGE DISEASE TYPE 2; HEART DISEASE; HEMODIALYSIS; HEREDITARY FRUCTOSE INTOLERANCE; HUMAN; HYPERAMMONEMIA; HYPERGLYCINEMIA; HYPOGLYCEMIA; INBORN ERROR OF METABOLISM; INFANTILE SPASM; INTRAHEPATIC CHOLESTASIS; ISOVALERIC ACIDEMIA; LIVER DISEASE; LIVER TRANSPLANTATION; MAPLE SYRUP URINE DISEASE; MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFICIENCY; METABOLIC ACIDOSIS; METABOLIC DISORDER; METHYLMALONIC ACIDEMIA; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; PYRIDOXAL PHOSPHATE RESPONSIVE EPILEPSY; PYRIDOXINE DEPENDENT EPILEPSY; PYRUVATE CARBOXYLASE DEFICIENCY; REVIEW; TYROSINEMIA; UREA CYCLE DISORDER; URINE ODOR; VERY LONG CHAIN ACYL COA DEHYDROGENASE DEFICIENCY; ZELLWEGER SYNDROME; GENETICS; HEALTH; METABOLISM, INBORN ERRORS; MORBIDITY; NEWBORN; PROCEDURES;

GENETIC TESTING; GLOBAL HEALTH; HUMANS; INFANT, NEWBORN; METABOLISM, INBORN ERRORS; MORBIDITY;

EID: 84931574902     PISSN: 00955108     EISSN: 15579840     Source Type: Journal    
DOI: 10.1016/j.clp.2015.02.010     Document Type: Review

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