Literature DB >> 9296199

Hepatoerythropoietic porphyria: neuroimaging findings.

J Berenguer1, J Blasco, C Cardenal, T Pujol, M J Cruces Prado, C Herrero, J M Mascaró, C de la Torre, J M Mercader.   

Abstract

CT and MR findings in two patients with hepatoerythropoietic porphyria are presented. CT scans showed atrophy and cortical mineralization at the same level. MR examination performed in one of the two patients showed mainly frontal cortical atrophy and punctate bright signal on T1- and T2-weighted sequences.

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Year:  1997        PMID： 9296199      PMCID： PMC8338136     

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN： 0195-6108            Impact factor:   3.825


  2 in total

1.  Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.

Authors:  Julie L Cantatore-Francis; Jessica Cohen-Pfeffer; Manisha Balwani; Philip Kahn; Herbert M Lazarus; Robert J Desnick; Julie V Schaffer
Journal:  Arch Dermatol       Date:  2010-05

Review 2.  Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

Authors:  Vaithamanithi-Mudumbai Sadagopa Ramanujam; Karl Elmo Anderson
Journal:  Curr Protoc Hum Genet       Date:  2015-07-01
  2 in total

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