Drug treatment of inborn errors of metabolism: A systematic review

Archives of Disease in Childhood

Volumn 98, Issue 6, 2013, Pages 454-461

  Alfadhel, Majid ^a   Al Thihli, Khalid ^b   Moubayed, Hiba ^c   Eyaid, Wafaa ^a   Al Jeraisy, Majed ^c  

^a KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^b SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

^c KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ALPHA TOCOPHEROL; ARGININE; BIOTIN; CARGLUMIC ACID; CARNITINE; CITRULLINE; CYSTORAN; DEXTROMETHORPHAN; FOLIC ACID; FOLINIC ACID; GALSULFASE; GLYCINE; HYDROXOCOBALAMIN; IDURONATE 2 SULFATASE; IMIGLUCERASE; ISOLEUCINE; KETAMINE; LARONIDASE; MERCAPTAMINE; METHIONINE; MIGLUSTAT; R GENE; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE; SERINE; THIAMINE; TIOPRONIN; UBIDECARENONE; UNCLASSIFIED DRUG; UNINDEXED DRUG; VALINE; VELAGLUCERASE ALFA;

3 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; ABNORMALLY HIGH SUBSTRATE CONCENTRATION IN BLOOD; ACIDEMIA; BIOTIN RESPONSIVE BASAL GANGLIA DISEASE; BIOTINIDASE DEFICIENCY; CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY; CARNITINE DEFICIENCY; CEREBRAL FOLATE TRANSPORTER FOLINIC ACID RESPONSIVE SEIZURE; COENZYME Q10 DEFICIENCY; COMPLEX I DEFICIENCY; CYSTINOSIS; CYSTINURIA; DIHYDROPTERIDINE REDUCTASE DEFICIENCY; DISORDERS OF CARBOHYDRATE METABOLISM; DRUG DOSE INCREASE; DRUG DOSE REGIMEN; DRUG DOSE TITRATION; DRUG INDICATION; EMBASE; ENZYME DEFICIENCY; ENZYME REPLACEMENT; EVIDENCE BASED MEDICINE; EXTRAPYRAMIDAL SYNDROME; FABRY DISEASE; GAUCHER DISEASE; GLUTATHIONE SYNTHETASE DEFICIENCY; GLYCOGEN STORAGE DISEASE TYPE 2; HEREDITARY FOLATE MALABSORPTION; HEREDITARY OROTIC ACIDURIA; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; HYDROXYMETHYLGLUTARYL COENZYME A LYASE DEFICIENCY; HYPERAMMONEMIA; HYPERGLYCINEMIA; HYPERHOMOCYSTINEMIA; INBORN ERROR OF METABOLISM; ISOVALERIC ACIDEMIA; LOADING DRUG DOSE; LYSINURIC PROTEIN INTOLERANCE; MALABSORPTION; MAPLE SYRUP URINE DISEASE; MAROTEAUX LAMY SYNDROME; MEDICAL LITERATURE; MEDLINE; METHIONINE SYNTHASE DEFICIENCY; METHYLENE SYNTHASE DEFICIENCY; METHYLMALONIC ACIDEMIA; NAGS DEFICIENCY; NIEMANN PICK DISEASE; ORNITHINE TRANSCARBAMYLASE DEFICIENCY; PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY; PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; PUBLICATION; PYRUVATE DEHYDROGENASE DEFICIENCY; RECOMMENDED DRUG DOSE; REVIEW; SEIZURE; SYSTEMATIC REVIEW;

DOSAGE; EVIDENCE BASED MEDICINE; IEM; INBORN ERRORS OF METABOLISM; TREATMENT;

DOSE-RESPONSE RELATIONSHIP, DRUG; EVIDENCE-BASED MEDICINE; HUMANS; METABOLISM, INBORN ERRORS; RANDOMIZED CONTROLLED TRIALS AS TOPIC;

EID: 84877587296     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/archdischild-2012-303131     Document Type: Review

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