Literature DB >> 2349886

Low density lipoprotein metabolism and receptor studies in a patient with pseudohomozygous familial hypercholesterolaemia.

L Masana1, J Joven, J Rubiés-Prat, B Lewis.   

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Year:  1990        PMID： 2349886     DOI： 10.1111/j.1651-2227.1990.tb11499.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN： 0001-656X


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  3 in total

1.  Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children.

Authors:  Dau-Ming Niu; Kah-Wai Chong; Ju-Hui Hsu; Tina Jui-Ting Wu; Hsiao-Chi Yu; Cheng-Hung Huang; Ming-Yu Lo; Ching Fai Kwok; Lisa E Kratz; Low-Tone Ho
Journal:  J Inherit Metab Dis       Date:  2010-06-03       Impact factor: 4.982

2.  Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia.

Authors:  Christian Renner; William E Connor; Robert D Steiner
Journal:  Clin Med Res       Date:  2016-05-26

3.  A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.

Authors:  M Varret; J P Rabès; B Saint-Jore; A Cenarro; J C Marinoni; F Civeira; M Devillers; M Krempf; M Coulon; R Thiart; M J Kotze; H Schmidt; J C Buzzi; G M Kostner; S Bertolini; M Pocovi; A Rosa; M Farnier; M Martinez; C Junien; C Boileau
Journal:  Am J Hum Genet       Date:  1999-05       Impact factor: 11.025
  3 in total

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