Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene

Metabolism: Clinical and Experimental

Volumn 59, Issue 4, 2010, Pages 463-467

  Cefalù, Angelo B ^a   Calvo, Pier L ^b   Noto, Davide ^a   Baldi, Maurizio ^b   Valenti, Vincenza ^a   Lerro, Pietro ^b   Tramuto, Fabio ^a   Lezo, Antonella ^b   Morra, Isabella ^c   Cenacchi, Giovanna ^d   Barbera, Cristiana ^b   Averna, Maurizio R ^a  

^a UNIVERSITY OF PALERMO   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

^c REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CHYLOMICRON; FECES LIPID; VITAMIN;

ADULT; ARTICLE; CASE REPORT; CHILD; CHYLOMICRON RETENTION DISEASE; CONSANGUINEOUS MARRIAGE; FAILURE TO THRIVE; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN TISSUE; INFANT; INTESTINE BIOPSY; LIPID ABSORPTION; MALABSORPTION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SARA2 GENE; STEATORRHEA;

ADULT; CHILD, PRESCHOOL; CHYLOMICRONS; FABRY DISEASE; FEMALE; HUMANS; INFANT; MALABSORPTION SYNDROMES; MALE; MONOMERIC GTP-BINDING PROTEINS; MUTATION; PEDIGREE; PHENOTYPE; STEATORRHEA;

EID: 77949473839     PISSN: 00260495     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.metabol.2009.07.042     Document Type: Article

References (11)

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