Literature DB >> 12937055

Dehydrated hereditary stomatocytosis with transient perinatal ascites.

A P Basu1, P Carey, T Cynober, M Chetty, J Delaunay, G W Stewart, S Richmond.   

Abstract

The case is reported of a mother and baby with dehydrated hereditary stomatocytosis and perinatal ascites, an autosomal dominant condition not previously reported in Britain. Recognition is important for the management of pregnancy and for avoidance of splenectomy which, if performed, can predispose the patient to fatal thromboembolic events.

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Mesh:

Year:  2003        PMID: 12937055      PMCID: PMC1721605          DOI: 10.1136/fn.88.5.f438

Source DB:  PubMed          Journal:  Arch Dis Child Fetal Neonatal Ed        ISSN: 1359-2998            Impact factor:   5.747


  3 in total

1.  PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus.

Authors:  Shinsaku Imashuku; Hideki Muramatsu; Takashi Sugihara; Yusuke Okuno; Xinan Wang; Kenichi Yoshida; Ayako Kato; Koichi Kato; Yasuaki Tatsumi; Ai Hattori; Shinya Kita; Keishi Oe; Atsushi Sueyoshi; Takeshi Usui; Yuichi Shiraishi; Kenichi Chiba; Hiroko Tanaka; Satoru Miyano; Seishi Ogawa; Seiji Kojima; Hitoshi Kanno
Journal:  Int J Hematol       Date:  2016-03-14       Impact factor: 2.490

2.  Localization of a major susceptibility locus influencing preterm birth.

Authors:  G Chittoor; V S Farook; S Puppala; S P Fowler; J Schneider; T D Dyer; S A Cole; J L Lynch; J E Curran; L Almasy; J W Maccluer; A G Comuzzie; D E Hale; R S Ramamurthy; D J Dudley; E K Moses; R Arya; D M Lehman; C P Jenkinson; B S Bradshaw; R A Defronzo; J Blangero; R Duggirala
Journal:  Mol Hum Reprod       Date:  2013-05-20       Impact factor: 4.025

Review 3.  The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.

Authors:  Joanna F Flatt; Lesley J Bruce
Journal:  Front Physiol       Date:  2018-04-16       Impact factor: 4.566

  3 in total

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