Hereditary caeruloplasmin deficiency: clinicopathological study of a patient

Kawanami, T; Kato, T; Daimon, M; Tominaga, M; Sasaki, H; Maeda, K; Arai, S; Shikama, Y; Katagiri, T
November 1996
Journal of Neurology, Neurosurgery & Psychiatry;Nov1996, Vol. 61 Issue 5, p506
Academic Journal
journal article
No abstract available.


Related Articles

  • Effect of a different caeruloplasmin assay method on the relationship between serum copper and caeruloplasmin. Twomey, P. J. // Postgraduate Medical Journal;Oct2008, Vol. 84 Issue 996, p549 

    Background: The assessment of copper status is difficult. When investigating excess and deficient copper states, healthcare professionals usually assume that the locally available caeruloplasmin and copper assay results are comparable to data from the literature. Objective: To investigate the...

  • The copper/caeruloplasmin ratio in routine clinical practice in different laboratories. Twomey, P. J.; Wierzbicki, A. S.; Reynolds, T. M.; Viljoen, A. // Journal of Clinical Pathology;Jan2009, Vol. 62 Issue 1, p60 

    Background: The diagnosis of copper deficiency and excess states is challenging. It was hoped that the non-caeruloplasmin-bound ("free") copper would reduce this difficulty; however, it has its own problems. The copper/ caeruloplasmin ratio has been advocated as an alternative index of copper...

  • Developing a diagnostic service for screening ABCA3, SFTPB and SFTPC genes in patients with Hereditary Pulmonary Surfactant Deficiency.  // Journal of Medical Genetics;Sep2007 Supplement 1, Vol. 44, pS85 

    An abstract of the study "Developing a diagnostic service for screening ABCA3, SFTPB and SFTPC genes in patients with Hereditary Pulmonary Surfactant Deficiency" is presented.

  • Copper: caeruloplasmin ratio. Twomey, Patrick J.; Viljoen, Adie; House, Ivan M.; Reynolds, Timothy M.; Wierzbicki, Anthony S. // Journal of Clinical Pathology;Apr2007, Vol. 60 Issue 4, p441 

    Investigation of copper status can be a diagnostic challenge. The non-caeruloplasmin-bound copper (NCC} has deficiencies; accordingly, the copper:caeruloplasmin ratio has been suggested as an alternative index of copper status. A reference interval for this index was derived. In addition to...

  • Hereditary Protein S Deficiency: Clinical Manifestations. Engesser, Luzia; Broekmans, Andre W.; Briet, Ernest; Brommer, Emile J. P.; Bertina, Rogier M. // Annals of Internal Medicine;May87, Vol. 106 Issue 5, p677 

    Discusses a study that evaluated family members with protein S deficiency to analyze the clinical manifestations of the disorder. Cause of the venous thrombotic events that occurred in the patients; Laboratory data from protein S deficient persons; Comparison of thrombotic manifestations in...

  • Coumarin Necrosis Associated with Hereditary Protein C Deficiency. McGehee, William G.; Klotz, Thomas A.; Epstein, David J.; Rapaport, Samuel I. // Annals of Internal Medicine;Jul84, Vol. 101 Issue 1, p59 

    Presents a case study on a patient with coumarin penile necrosis whose case was previously reported has hereditary deficiency in protein C. Description of coumarin skin necrosis; Information on the patient; Recommendations.

  • Myelodysplastic syndrome in a patient with hereditary pyruvate kinase deficiency. Ryan, Clodagh; Percy, Melanie; O'Brien, David; Howard, Julie; Smith, Edward Gordon; McCann, Shaun // Hematology Journal;2004, Vol. 5 Issue 1, p91 

    Presents a letter to the editor of "The Hematology Journal" concerning myelodysplastic syndrome in a patient with hereditary pyruvate kinase deficiency.

  • Disseminated Tuberculosis in a Patient with Hereditary C1-inhibitor Deficiency. Kallel-Sellami, M.; Blouin, J.; Abdelmalek, R.; Laadhar, L.; Zerzeri, Y.; Barbouche, M.; Tiouiri, H.; Chaabène, T.; Fremeaux-Bacchi, V.; Zitouni, M.; Makni, S. // Infection;Apr2008, Vol. 36 Issue 2, p181 

    A letter to the editor is presented that discusses the disseminated tuberculosis in a patient with hereditary C1-inhibitor deficiency.

  • Wilson's disease: the importance of measuring serum caeruloplasmin non-immunologically. Walshe, J. M. // Annals of Clinical Biochemistry;Mar2003, Vol. 40 Issue 2, p115 

    Wilson's disease should be considered as a possible diagnosis in any child, adolescent or young adult with liver damage without other explanation, especially when haemolysis is present. However, it may also present in adolescents or young adults with neurological signs confined to the motor...

  • Myeloneuropathy due to copper deficiency: clinical and MRI findings after copper supplementation. Bolamperti, Laura; Leone, Maurizio A.; Stecco, Alessandro; Reggiani, Monica; Pirisi, Mario; Carriero, Alessandro; Monaco, Francesco // Neurological Sciences;Dec2009, Vol. 30 Issue 6, p521 

    Acquired copper deficiency constitutes an under-recognised cause of myelopathy. Aim of the study was to describe the clinical and imaging features at admission and after copper supplementation of a patient with acquired copper deficiency myeloneuropathy. A 73-year-old woman presented with...


Read the Article


Sign out of this library

Other Topics