Literature DB >> 436329

Hereditary hypoceruloplasminemia.

C Q Edwards, D M Williams, G E Cartwright.   

Abstract

Serum ceruloplasmin values of less than 21.0 mg/100 ml in males or less than 23.0 mg/100 ml in females were observed in 14 out of 156 otherwise healthy members of a pedigree. The hypoceruloplasminemia segregated in a fashion suggesting that the affected individuals are heterozygous for a mutant gene that results in hypoceruloplasminemia. This mutant gene could be a Wilson's disease gene, but excessive copper loading was absent. It is suggested that hereditary hypoceruloplasminemia may be a benign entity distinct from Wilson's disease.

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Year:  1979        PMID: 436329     DOI: 10.1111/j.1399-0004.1979.tb01740.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  5 in total

Review 1.  Hereditary caeruloplasmin deficiency: clinicopathological study of a patient.

Authors:  T Kawanami; T Kato; M Daimon; M Tominaga; H Sasaki; K Maeda; S Arai; Y Shikama; T Katagiri
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-11       Impact factor: 10.154

2.  Hereditary deficiency of ferroxidase (aka caeruloplasmin)

Authors:  J I Logan
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-11       Impact factor: 10.154

Review 3.  Copper in brain.

Authors:  R M Nalbandyan
Journal:  Neurochem Res       Date:  1983-10       Impact factor: 3.996

4.  Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.

Authors:  Z L Harris; Y Takahashi; H Miyajima; M Serizawa; R T MacGillivray; J D Gitlin
Journal:  Proc Natl Acad Sci U S A       Date:  1995-03-28       Impact factor: 11.205

Review 5.  Inherited Disorders of Iron Overload.

Authors:  Kostas Pantopoulos
Journal:  Front Nutr       Date:  2018-10-29
  5 in total

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