Inborn errors of metabolism and expanded newborn screening: Review and update

Critical Reviews in Clinical Laboratory Sciences

Volumn 50, Issue 6, 2013, Pages 142-162

  Mak, Chloe Miu ^a   Lee, Han Chih Hencher ^a   Chan, Albert Yan Wo ^a   Lam, Ching Wan ^b  

^a PRINCESS MARGARET HOSPITAL   (Hong Kong)

^b UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Biochemical genetics; Chemical pathology; Expanded newborn screening; Inborn errors of metabolism

Indexed keywords

ACETYLCARNITINE; ALANINE; ARGININE; CARNITINE; CARNITINE DERIVATIVE; CITRULLINE; GLYCYLLEUCINE; ISOLEUCINE; LEUCINE; METHIONINE; ORNITHINE; PROPIONYLCARNITINE; TYROSINE; VALINE;

ACIDURIA; ADRENOLEUKODYSTROPHY; AMINO ACID ANALYSIS; ARGININOSUCCINIC ACIDURIA; ASIA; AUSTRALIA; BIOTINIDASE DEFICIENCY; BUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY; CEREBROTENDINOUS XANTHOMATOSIS; CHINA; CITRULLINEMIA; CITRULLINEMIA TYPE II; COMPARATIVE STUDY; CONGENITAL ADRENAL HYPERPLASIA; CONGENITAL ERYTHROPOIETIC PORPHYRIA; CONGENITAL HYPOTHYROIDISM; CONGENITAL TOXOPLASMOSIS; COST EFFECTIVENESS ANALYSIS; CYANOCOBALAMIN DEFICIENCY; CYSTIC FIBROSIS; DRIED BLOOD SPOT TESTING; ENZYME DEFICIENCY; ETHNIC GROUP; FABRY DISEASE; FALSE POSITIVE RESULT; FAMILIAL AMYLOIDOSIS; GALACTOSEMIA; GAUCHER DISEASE; GENETIC COUNSELING; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; GLUTARIC ACIDEMIA TYPE 1; GLYCOGEN STORAGE DISEASE TYPE 2; HEALTH CARE PERSONNEL; HEMOGLOBINOPATHY; HOLOCARBOXYLASE SYNTHASE DEFICIENCY; HOMOCYSTINURIA; HONG KONG; HOSPITALIZATION; HUMAN; HYDROXYMETHYLGLUTARYL COENZYME A LYASE DEFICIENCY; HYPERARGININEMIA; HYPERPHENYLALANINEMIA; INBORN ERROR OF METABOLISM; INCIDENCE; JAPAN; LAW; LEIGH DISEASE; LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MAPLE SYRUP URINE DISEASE; MASS SCREENING; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MENTAL DEFICIENCY; METHYLCROTONOYL COENZYME A CARBOXYLASE DEFICIENCY; METHYLGLUTACONIC ACIDURIA; METHYLMALONIC ACIDEMIA; MOLECULAR GENETICS; MORQUIO SYNDROME; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEWBORN SCREENING; NIEMANN PICK DISEASE; ONSET AGE; ORNITHINE TRANSCARBAMYLASE DEFICIENCY; OXALOSIS 1; PARENTAL CONSENT; PATHOGENESIS; PHENYLKETONURIA; PILOT STUDY; PREVALENCE; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; QUALITY CONTROL; REVIEW; TAIWAN; TANDEM MASS SPECTROMETRY; TAY SACHS DISEASE; TYROSINEMIA; UNITED KINGDOM; WILSON DISEASE; WORLD HEALTH ORGANIZATION;

HUMANS; INCIDENCE; INFANT, NEWBORN; LEGISLATION, MEDICAL; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; PARENTAL CONSENT; WORLD HEALTH;

EID: 84889778589     PISSN: 10408363     EISSN: 1549781X     Source Type: Journal    
DOI: 10.3109/10408363.2013.847896     Document Type: Review

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