Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency

Wiener Klinische Wochenschrift

Volumn 124, Issue 23-24, 2012, Pages 851-854

  Joshi, Pushpa Raj ^a   Deschauer, Marcus ^a   Zierz, Stephan ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

Carnitine palmitoyltransferase deficiency; Rhabdomyolysis; Symptomatic heterozygous

Indexed keywords

CREATINE KINASE; D DIMER; FRESH FROZEN PLASMA; MYOGLOBIN;

ADULT; ARTICLE; BODY TEMPERATURE; BRAIN EDEMA; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CREATINE KINASE BLOOD LEVEL; DISSEMINATED INTRAVASCULAR CLOTTING; FEMALE; HEAT SENSATION; HETEROZYGOTE DETECTION; HOSPITALIZATION; HUMAN; INTERNATIONAL NORMALIZED RATIO; LENGTH OF STAY; MALE; MUSCLE CRAMP; MYALGIA; PLASMA TRANSFUSION; RHABDOMYOLYSIS; TEMPERATURE; THROMBOCYTE; TREATMENT DURATION;

ADULT; CARNITINE O-PALMITOYLTRANSFERASE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FEVER OF UNKNOWN ORIGIN; HETEROZYGOTE DETECTION; HUMANS; INTRONS; LIPID METABOLISM, INBORN ERRORS; MALE; MITOCHONDRIAL DISEASES; MUSCLE CRAMP; MUSCLE, SKELETAL; MUSCULAR DISEASES; REFERENCE VALUES; RHABDOMYOLYSIS; RUNNING; TENNIS; YOUNG ADULT;

EID: 84876283573     PISSN: 00435325     EISSN: 16137671     Source Type: Journal    
DOI: 10.1007/s00508-012-0296-9     Document Type: Article

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