Lethal neonatal carnitine palmitoyltransferase II deficiency: An unusual presentation of a rare disorder

American Journal of Perinatology

Volumn 20, Issue 1, 2003, Pages 25-32

  Sharma, Renu ^a   Perszyk, Anthony A ^a   Marangi, Donald ^a   Monteiro, Carmela ^a   Raja, Savithri ^b  

^a UNIVERSITY OF FLORIDA HEALTH SCIENCE CENTER   (United States)

^b KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Cardiac dysrrhythmia; Carnitine palmitoyltransferase II; Cerebral dysgenesis; Cystic renal dysplasia; Hemangioma; Hyperkalemia

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE II; UNCLASSIFIED DRUG;

APNEA; ARTICLE; AUTOPSY; CASE REPORT; ENZYME DEFICIENCY; HEART ARRHYTHMIA; HEMANGIOMA; HUMAN; HYPERKALEMIA; HYPOTHERMIA; KIDNEY DYSPLASIA; KIDNEY FAILURE; KIDNEY HYPERTROPHY; LABORATORY TEST; LETHALITY; LETHARGY; MALE; MUSCLE HYPOTONIA; MYOCARDIAL DISEASE; NEWBORN; NEWBORN DEATH; NEWBORN DISEASE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESPIRATORY FAILURE;

EID: 0037237899     PISSN: 07351631     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2003-37952     Document Type: Article

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