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Literature DB >> 22378282

Clinical utility gene card for: Abetalipoproteinaemia.

John R Burnett¹, Damon A Bell, Amanda J Hooper, Robert A Hegele.

Abstract

Mesh：

Substances：

Year: 2012 PMID： 22378282 PMCID： PMC3400737 DOI： 10.1038/ejhg.2012.30

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

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8 in total

Review 1. The role of the microsomal triglygeride transfer protein in abetalipoproteinemia.

Authors: N Berriot-Varoqueaux; L P Aggerbeck; M Samson-Bouma; J R Wetterau
Journal: Annu Rev Nutr Date: 2000 Impact factor: 11.848

Review 2. Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism.

Authors: Amanda J Hooper; Frank M van Bockxmeer; John R Burnett
Journal: Crit Rev Clin Lab Sci Date: 2005 Impact factor: 6.250

3. Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia.

Authors: D P Muller; J K Lloyd
Journal: Ann N Y Acad Sci Date: 1982 Impact factor: 5.691

4. Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients.

Authors: I Chowers; E Banin; S Merin; M Cooper; E Granot
Journal: Eye (Lond) Date: 2001-08 Impact factor: 3.775

5. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia.

Authors: D Sharp; L Blinderman; K A Combs; B Kienzle; B Ricci; K Wager-Smith; C M Gil; C W Turck; M E Bouma; D J Rader
Journal: Nature Date: 1993-09-02 Impact factor: 49.962

6. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.

Authors: T M Narcisi; C C Shoulders; S A Chester; J Read; D J Brett; G B Harrison; T T Grantham; M F Fox; S Povey; T W de Bruin
Journal: Am J Hum Genet Date: 1995-12 Impact factor: 11.025

7. Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.

Authors: C C Shoulders; D J Brett; J D Bayliss; T M Narcisi; A Jarmuz; T T Grantham; P R Leoni; S Bhattacharya; R J Pease; P M Cullen
Journal: Hum Mol Genet Date: 1993-12 Impact factor: 6.150

Review 8. Abetalipoproteinemia: two case reports and literature review.

Authors: Rola Zamel; Razi Khan; Rebecca L Pollex; Robert A Hegele
Journal: Orphanet J Rare Dis Date: 2008-07-08 Impact factor: 4.123

8 in total

5 in total

Clinical utility gene card for: Abetalipoproteinaemia.

Review 1. The role of the microsomal triglygeride transfer protein in abetalipoproteinemia.

Review 2. Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism.

3. Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia.

4. Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients.

5. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia.

6. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.

7. Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.

Review 8. Abetalipoproteinemia: two case reports and literature review.

Review 1. Hypobetalipoproteinemia and abetalipoproteinemia.

Review 2. Update on primary hypobetalipoproteinemia.

Review 3. Insights from human congenital disorders of intestinal lipid metabolism.

Review 4. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.

Review 5. A successful spontaneous pregnancy in abetalipoproteinemia: Amsterdam or the art of vitamin replacement?