Response to the article by Linnankivi et al., entitled ‘Cerebroretinal microangiopathy with calcifications and cyst, Revesz syndrome and aplastic anemia’

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Cerebroretinal microangiopathy with calcifications and cysts

RATIONAL Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is believed to be an autosomal recessive genetic disease, with disorders in multisystem organs. Its characteristic neurological disorders manifested on neuroimaging are a triad of leukoencephalopathy, intracranial calcifications, and parenchymal cysts. In this paper, we report a CRMCC patient with multisystem involvem...

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Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and Cysts.

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a highly pleiotropic disorder, particularly affecting the eye, brain, bone, and gut. The potential catastrophic sequelae of the associated gastrointestinal phenotype, variably characterised by both chronic bleeding and liver failure, is becoming increasingly apparent. Here we report a probable case of CRMCC with pre- and po...

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Response to Sadek et al. and Kotlikoff et al.

Ditte Caroline Andersen,1,2,* Charlotte Harken Jensen,1 and Søren Paludan Sheikh1,3 1Laboratory of Molecular and Cellular Cardiology, Department of Clinical Biochemistry and Pharmacology, Odense University Hospital, 5000 Odense C, Denmark 2Clinical Institute/University of Southern Denmark, 5000 Odense C, Denmark 3Institute of Molecular Medicine/University of Southern Denmark, 5000 Odense C, Den...

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ژورنال

عنوان ژورنال: Bone Marrow Transplantation

سال: 2012

ISSN: 0268-3369,1476-5365

DOI: 10.1038/bmt.2012.108