Perinatal onset mevalonate kinase deficiency

Pediatric and Developmental Pathology

Volumn 14, Issue 4, 2011, Pages 301-306

  Steiner, Laurie A ^a   Ehrenkranz, Richard A ^a   Peterec, Steven M ^a   Steiner, Robert D ^b   Reyes Múgica, Miguel ^c   Gallagher, Patrick G ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

Anemia; Cholestatic liver disease; Cholesterol; Mevalonate kinase

Indexed keywords

MEVALONATE KINASE;

ADULT; ANEMIA; ARTICLE; ARTIFICIAL VENTILATION; BONE DISEASE; BRAIN VENTRICLE DILATATION; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; CHOLESTASIS; DIARRHEA; DISSEMINATED INTRAVASCULAR CLOTTING; EXTRAMEDULLARY HEMATOPOIESIS; FEMALE; GESTATIONAL AGE; HEART VENTRICLE HYPERTROPHY; HUMAN; HYPERTELORISM; HYPOTENSION; INFANT; INTERNATIONAL NORMALIZED RATIO; INTRAUTERINE GROWTH RETARDATION; LIVER DISEASE; MALE; MEVALONATE KINASE DEFICIENCY; NEWBORN; NEWBORN PERIOD; PERINATAL PERIOD; PRIMIGRAVIDA; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RECURRENT FEVER; RESPIRATORY FAILURE; RETINA HEMORRHAGE; SIBLING; THROMBOCYTOPENIA; TRICUSPID VALVE REGURGITATION;

AMINO ACID SEQUENCE; BASE SEQUENCE; FATAL OUTCOME; FEMALE; HUMANS; MALE; MEVALONATE KINASE DEFICIENCY; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY;

EID: 81155134305     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/11-02-0985-OA.1     Document Type: Article

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