Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate

Journal of Perinatology

Volumn 23, Issue 5, 2003, Pages 384-386

  Harding, Cary O ^a,b   Pillers, De Ann M ^a,b   Steiner, Robert D ^a,b   Bottiglieri, Teodoro ^c   Rosenblatt, David S ^d   Debley, Jason ^e   Gibson, K Michael ^a,b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^d MCGILL UNIVERSITY   (Canada)

^e Legacy Emanuel Children's Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; CARNITINE; HYDROXOCOBALAMIN; PHENOBARBITAL; PHENYTOIN;

ACIDOSIS; ARTICLE; BACTERIAL INFECTION; CASE REPORT; CEREBROSPINAL FLUID; CLINICAL FEATURE; COBALAMIN C DISORDER; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; DISEASE ASSOCIATION; FEMALE; HUMAN; HYPERAMMONEMIA; HYPERHOMOCYSTEINEMIA; HYPOGLYCEMIA; INBORN ERROR OF METABOLISM; INFANT; KETOACIDOSIS; LETHARGY; MALE; METHYLMALONIC ACIDURIA; NEUROTOXICITY; NEWBORN; SEIZURE; SEPSIS; VIRUS INFECTION; VITAMIN METABOLISM;

AMINO ACID METABOLISM, INBORN ERRORS; BLOOD CHEMICAL ANALYSIS; DIAGNOSTIC ERRORS; FEMALE; HUMANS; HYPERHOMOCYSTEINEMIA; INFANT, NEWBORN; MALE; METHYLMALONIC ACID; PROGNOSIS; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME; URINALYSIS;

EID: 0041695146     PISSN: 07438346     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.jp.7210955     Document Type: Article

References (8)

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