Literature DB >> 18408989

Aceruloplasminemia: a case report.

Domenico Di Raimondo, Antonio Pinto, Antonino Tuttolomondo, Paola Fernandez, Clara Camaschella, Giuseppe Licata.   

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Year:  2008        PMID： 18408989     DOI： 10.1007/s11739-008-0150-2

Source DB:  PubMed          Journal:  Intern Emerg Med        ISSN： 1828-0447            Impact factor:   3.397


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  32 in total

1.  Increased oxysterols associated with iron accumulation in the brains and visceral organs of acaeruloplasminaemia patients.

Authors:  H Miyajima; J Adachi; S Kohno; Y Takahashi; Y Ueno; T Naito
Journal:  QJM       Date:  2001-08

Review 2.  Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis.

Authors:  Xueying Xu; Sokhon Pin; Muraya Gathinji; Ralph Fuchs; Z Leah Harris
Journal:  Ann N Y Acad Sci       Date:  2004-03       Impact factor: 5.691

3.  MR imaging of cerebral cortical involvement in aceruloplasminemia.

Authors:  Marina Grisoli; Alberto Piperno; Luisa Chiapparini; Raffaella Mariani; Mario Savoiardo
Journal:  AJNR Am J Neuroradiol       Date:  2005-03       Impact factor: 3.825

Review 4.  A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: administration of fresh-frozen human plasma.

Authors:  M Yonekawa; T Okabe; Y Asamoto; M Ohta
Journal:  Eur Neurol       Date:  1999       Impact factor: 1.710

Review 5.  The World Health Organization (WHO) classification of the myeloid neoplasms.

Authors:  James W Vardiman; Nancy Lee Harris; Richard D Brunning
Journal:  Blood       Date:  2002-10-01       Impact factor: 22.113

6.  Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation.

Authors:  R Mariani; C Arosio; S Pelucchi; M Grisoli; A Piga; P Trombini; A Piperno
Journal:  Gut       Date:  2004-05       Impact factor: 23.059

7.  Human ceruloplasmin. Tissue-specific expression of transcripts produced by alternative splicing.

Authors:  F M Yang; W E Friedrichs; R L Cupples; M J Bonifacio; J A Sanford; W A Horton; B H Bowman
Journal:  J Biol Chem       Date:  1990-06-25       Impact factor: 5.157

8.  Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations.

Authors:  Sandra Bosio; Marco De Gobbi; Antonella Roetto; Gabriella Zecchina; Eugenio Leonardo; Mario Rizzetto; Claudio Lucetti; Lucia Petrozzi; Ubaldo Bonuccelli; Clara Camaschella
Journal:  Blood       Date:  2002-09-15       Impact factor: 22.113

9.  Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus.

Authors:  J I Logan; K B Harveyson; G B Wisdom; A E Hughes; G P Archbold
Journal:  QJM       Date:  1994-11

10.  Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration.

Authors:  H Miyajima; Y Nishimura; K Mizoguchi; M Sakamoto; T Shimizu; N Honda
Journal:  Neurology       Date:  1987-05       Impact factor: 9.910
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  1 in total

1.  Pancytopenia and Myelodysplastic Changes in Aceruloplasminemia: A Case with a Novel Pathogenic Variant in the Ceruloplasmin Gene.

Authors:  Ayako Yamamura; Yoshitaka Kikukawa; Kenji Tokunaga; Eiko Miyagawa; Shinya Endo; Hirosada Miyake; Hiroyuki Hata; Hiroaki Mitsuya; Kunihiro Yoshida; Masao Matsuoka
Journal:  Intern Med       Date:  2018-02-09       Impact factor: 1.271
  1 in total

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