A three month-old infant with severe hyperchylomicronemia: Molecular diagnosis and extracorporeal treatment

Atherosclerosis Supplements

Volumn 14, Issue 1, 2013, Pages 73-76

  Stefanutti, Claudia ^a   Gozzer, Maria ^a   Pisciotta, Livia ^b   D'Eufemia, Patrizia ^c   Bosco, Giovanna ^c   Morozzi, Claudia ^a   Papadia, Francesco ^d   Shafii, Manhaz ^a   Di Giacomo, Serafina ^a   Bertolini, Stefano ^b  

^a POLICLINICO UMBERTO I   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d Pediatric Hospital Giovanni XXIII   (Italy)

Author keywords

Hyperchylomicronemia; Lipoprotein lipase mutation; Plasma exchange

Indexed keywords

TRIACYLGLYCEROL;

ACUTE PANCREATITIS; ARTICLE; BODY WEIGHT; CASE REPORT; DISEASE SEVERITY; EXTRACORPOREAL MEMBRANE OXYGENATION DEVICE; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPERLIPOPROTEINEMIA TYPE 1; INFANT; MOLECULAR DIAGNOSIS; NUCLEOTIDE SEQUENCE; PLASMAPHERESIS; PRIORITY JOURNAL; TRIACYLGLYCEROL BLOOD LEVEL;

BIOLOGICAL MARKERS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE I; INFANT; INFANT FORMULA; LIPOPROTEIN LIPASE; MILK PROTEINS; MUTATION; PHENOTYPE; PLASMA EXCHANGE; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME; TRIGLYCERIDES;

EID: 84872834801     PISSN: 15675688     EISSN: 18785050     Source Type: Journal    
DOI: 10.1016/j.atherosclerosissup.2012.10.020     Document Type: Article

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