Diagnosis of disorders of intermediary metabolism in New Zealand before and after expanded newborn screening: 2004-2009

New Zealand Medical Journal

Volumn 125, Issue 1348, 2012, Pages 42-50

  Wilson, Callum ^a   Kerruish, Nicola J ^b   Wilcken, Bridget ^c   Wiltshire, Esko ^d   Bendikson, Kathy ^e   Webster, Dianne ^a  

^a AUCKLAND CITY HOSPITAL   (New Zealand)

^b UNIVERSITY OF OTAGO   (New Zealand)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d UNIVERSITY OF OTAGO   (New Zealand)

^e MINISTRY OF HEALTH   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

2 METHYL 3 HYDOXYBUTYRIC ACIDEMIA; 3 METHYL GLUTACONIC ACADEMIA; 3 METHYLCROTONYL CARBOXYLASE DEFICIENCY; ARGININASE DEFICIENCY; ARGININOSUCCINIC ACIDEMIA; ARTICLE; BETA KETOTHIOLASE DEFICIENCY; CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY; CARNITINE PALMITYLTRANSFERASE 1 DEFICIENCY; CARNITINE PALMITYLTRANSFERASE 2 DEFICIENCY; CARNITINE UPTAKE DEFECT; CITRULLINEMIA TYPE 1; CITRULLINEMIA TYPE 2; CLINICAL ARTICLE; CYANOCOBALAMIN DEFICIENCY; DISORDERS OF CARBOHYDRATE METABOLISM; GLUTARIC ACIDEMIA TYPE I; HMG COA LYASE DEFICIENCY; HOMOCYSTINURIA; HUMAN; INBORN ERROR OF METABOLISM; ISOVALERIC ACADEMIA; MAPLE SYRUP URINE DISEASE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; METHYLMALONIC ACIDEMIA; MULTIPLE ACYL COA DEHYDROGEANSE DEFICIENCY; NEW ZEALAND; NEWBORN SCREENING; PHENYLKETONURIA; PROPIONIC ACIDEMIA; TRIFUNCTIONAL PROTEIN DEFICIENCY; TYROSINEMIA TYPE II; VERY LONG CHAIN ACYL COA DEHYDROGENASE DEFICIENCY;

COHORT STUDIES; FEMALE; HUMANS; INCIDENCE; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; NEW ZEALAND; PHYSICIAN'S PRACTICE PATTERNS; QUESTIONNAIRES;

EID: 84856020852     PISSN: None     EISSN: 11758716     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

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