Literature DB >> 4368720

Familial homozygous hypobetalipoproteinemia.

C Cottrill, C J Glueck, V Leuba, F Millett, D Puppione, W V Brown.   

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Year:  1974        PMID： 4368720     DOI： 10.1016/0026-0495(74)90010-9

Source DB:  PubMed          Journal:  Metabolism        ISSN： 0026-0495            Impact factor:   8.694


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  13 in total

1.  Unusual presentation of three siblings with familial heterozygous hypobetalipoproteinaemia.

Authors:  V Kairamkonda; M Dalzell
Journal:  Eur J Pediatr       Date:  2003-01-11       Impact factor: 3.183

Review 2.  Genetic basis of lipoprotein disorders.

Authors:  J L Breslow
Journal:  J Clin Invest       Date:  1989-08       Impact factor: 14.808

3.  Epitopes of apolipoprotein B-100 and B-48 in both liver and intestine. Expression and evidence for local synthesis in recessive abetalipoproteinemia.

Authors:  R P Dullaart; B Speelberg; H J Schuurman; R W Milne; L M Havekes; Y L Marcel; H J Geuze; M M Hulshof; D W Erkelens
Journal:  J Clin Invest       Date:  1986-11       Impact factor: 14.808

4.  Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31). A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins.

Authors:  S G Young; S T Hubl; R S Smith; S M Snyder; J F Terdiman
Journal:  J Clin Invest       Date:  1990-03       Impact factor: 14.808

5.  Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome.

Authors:  B B Scott; J P Miller; M S Losowsky
Journal:  Gut       Date:  1979-02       Impact factor: 23.059

6.  Liver fibrosis in a patient with familial homozygous hypobetalipoproteinaemia: possible role of vitamin supplementation.

Authors:  J Y Scoazec; M E Bouma; J F Roche; D Blache; N Verthier; G Feldmann; G Gay
Journal:  Gut       Date:  1992-03       Impact factor: 23.059

7.  Homozygous hypobetalipoproteinaemia and phenylketonuria.

Authors:  J U Leititis; M Stahl; W Tackmann; H Wick; A Wildberg
Journal:  Eur J Pediatr       Date:  1985-07       Impact factor: 3.183

8.  Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology.

Authors:  G M Berger; G Brown; H E Henderson; F Bonnici
Journal:  J Med Genet       Date:  1983-06       Impact factor: 6.318

9.  Combined vitamin A and E therapy prevents retinal electrophysiological deterioration in abetalipoproteinaemia.

Authors:  S Bishara; S Merin; M Cooper; E Azizi; G Delpre; R J Deckelbaum
Journal:  Br J Ophthalmol       Date:  1982-12       Impact factor: 4.638

10.  Familial disorders of plasma apolipoproteins.

Authors:  C R Sirtori; G Franceschini
Journal:  Klin Wochenschr       Date:  1985-06-03
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