Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia

British Journal of Haematology

Volumn 130, Issue 2, 2005, Pages 297-309

  Rees, David C ^a,n   Iolascon, Achille ^b,c   Carella, Massimo ^d   O'Marcaigh, Aengus S ^e   Kendra, James R ^f   Jowitt, Simon N ^g   Wales, J K ^a   Vora, Ajay ^a   Makris, M ^a   Manning, Nigel ^a   Nicolaou, Anna ^h   Fisher, Julie ⁱ   Mann, Anuska ^j   Machin, Samuel J ^k   Clayton, Peter T ^j   Gasparini, Paolo ^l   Stewart, Gordon W ^m  

^a SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF FOGGIA   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^e OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^f BURNLEY GENERAL HOSPITAL   (United Kingdom)

^g STEPPING HILL HOSPITAL   (United Kingdom)

^h UNIVERSITY OF BRADFORD   (United Kingdom)

ⁱ UNIVERSITY OF LEEDS   (United Kingdom)

^j UNIVERSITY COLLEGE LONDON   (United Kingdom)

^k UNIVERSITY COLLEGE HOSPITAL   (United Kingdom)

^l SECOND UNIVERSITY OF NAPLES   (Italy)

^m UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁿ KING'S COLLEGE LONDON   (United Kingdom)

more..

Author keywords

Haemolysis; Macrothrombocytopenia; Phytosterolaemia; Sitosterolaemia; Stomatocytosis

Indexed keywords

PHYTOSTEROL; ABC TRANSPORTER; ABCG5 PROTEIN, HUMAN; ABCG8 PROTEIN, HUMAN; LIPOPROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GAS CHROMATOGRAPHY; GENE MUTATION; HEMOLYSIS; HUMAN; MALE; MASS SPECTROMETRY; PEDIGREE; PRIORITY JOURNAL; STOMATOCYTOSIS; THROMBOCYTOPENIA; BLOOD; CHEMISTRY; ERYTHROCYTE DISORDER; ERYTHROCYTE MEMBRANE; GENETICS; INBORN ERROR OF STEROID METABOLISM; MUTATION; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PATHOLOGY; PHYSIOLOGY; THROMBOCYTE; ULTRASTRUCTURE;

ADOLESCENT; ADULT; ATP-BINDING CASSETTE TRANSPORTERS; BLOOD PLATELETS; CHILD; ERYTHROCYTE MEMBRANE; ERYTHROCYTES, ABNORMAL; FEMALE; HEMOLYSIS; HUMANS; LIPOPROTEINS; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MUTATION; PEDIGREE; PHYTOSTEROLS; STEROID METABOLISM, INBORN ERRORS; THROMBOCYTOPENIA;

EID: 24944465805     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2005.05599.x     Document Type: Article

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