Literature DB >> 192498

Thyroxine binding globulin deficiency in a family with type I hyperlipoproteinaemia.

S W Lamberts, A F Casparie, K Miedema, G Hennemann, H A Hulsmans.   

Abstract

A familial type I hyperlipoproteinaemia is described in three members of a family of eleven; on the basis of LPL activity and HDL content of plasma three other members of the family have been diagnosed to be heterozygotes without other disturbances in their lipid spectrum. The distribution of this lipid disorder is in accordance with an autosomal recessive inheritance pattern. In this family a second hereditary condition, thyroxine binding globulin deficiency, was found in addition to the hyperlipoproteinaemia. The inheritance of this condition appears to be as an autosomal dominant. An interrelated inheritance pattern of both conditions could not be proved, but both traits may be located on the same chromosome at some distance from another to allow recombination.

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Year:  1977        PMID: 192498     DOI: 10.1111/j.1365-2265.1977.tb03315.x

Source DB:  PubMed          Journal:  Clin Endocrinol (Oxf)        ISSN: 0300-0664            Impact factor:   3.478


  2 in total

1.  Inherited X chromosome linked thyroxine-binding globulin (TBG) deficiency in a homozygous female.

Authors:  M Bigazzi; R Ronga; A L Olivotti; G Scarselli; S Refetoff
Journal:  J Endocrinol Invest       Date:  1980 Oct-Dec       Impact factor: 4.256

2.  Familial thyroxine-binding globulin deficiency detected in a pilot screening program for congenital hypothyroidism.

Authors:  M Carta Sorcini; L Moschini; L Fiore; S Tomarchio; M G Di Irio; E Gilardi; C Romagnoli; V Currò; S Carta
Journal:  J Endocrinol Invest       Date:  1982 Jan-Feb       Impact factor: 4.256

  2 in total

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