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Literature DB >> 428829

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

Abstract

A patient is reported with hypobetalipoproteinaemia and clinical features resembling the Bassen-Kornzweig syndrome (abetalipoproteinaemia) more completely than previously described. This supports a link between hypobetalipoproteinaemia and abetalipoproteinaemia and it is suggested that the Bassen-Kornzweig syndrome has a wide spectrum with serum betalipoprotein ranging from absent to normal. It is likely that there are different genetic entities with similar end results.

Entities: Disease Species

Mesh：

Year: 1979 PMID： 428829 PMCID： PMC1419446 DOI： 10.1136/gut.20.2.163

Source DB: PubMed Journal: Gut ISSN： 0017-5749 Impact factor: 23.059

28 in total

1. SOME PROPERTIES OF A CHOLESTEROL ESTERIFYING ENZYME IN HUMAN PLASMA.

Authors: J A GLOMSET; J L WRIGHT
Journal: Biochim Biophys Acta Date: 1964-08-26

2. On having no beta-lipoprotein. A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea.

Authors: H B SALT; O H WOLFF; J K LLOYD; A S FOSBROOKE; A H CAMERON; D V HUBBLE
Journal: Lancet Date: 1960-08-13 Impact factor: 79.321

3. Abetalipoproteinaemia. A case report with pathological studies.

Authors: G M Yuill; C Scholz; R G Lascelles
Journal: Postgrad Med J Date: 1976-11 Impact factor: 2.401

4. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa.

Authors: F A BASSEN; A L KORNZWEIG
Journal: Blood Date: 1950-04 Impact factor: 22.113

5. Turnover of apolipoprotein-B in two subjects with familial hypobetalipoproteinemia.

Authors: G Sigurdsson; A Nicoll; B Lewis
Journal: Metabolism Date: 1977-01 Impact factor: 8.694

6. Benign normolipoproteinaemic acanthocytosis.

Authors: D Lowe; R M Ibbotson; A Loizou
Journal: Br Med J Date: 1977-07-09

7. Liver ultrastructure in abetalipoproteinemia: Evolution of micronodular cirrhosis.

Authors: J S Partin; J C Partin; W K Schubert; A J McAdams
Journal: Gastroenterology Date: 1974-07 Impact factor: 22.682

8. Long-term management of abetalipoproteinaemia. Possible role for vitamin E.

Authors: D P Muller; J K Lloyd; A C Bird
Journal: Arch Dis Child Date: 1977-03 Impact factor: 3.791

9. Snow-white duodenum: a new endoscopic sign in a patient with hypobetalipoproteinemia.

Authors: C J Mitchell; B B Scott; A W Bullen; M S Losowsky
Journal: Gastrointest Endosc Date: 1978-02 Impact factor: 9.427

10. Longevity syndromes: familial hypobeta and familial hyperalpha lipoproteinemia.

Authors: C J Glueck; P Gartside; R W Fallat; J Sielski; P M Steiner
Journal: J Lab Clin Med Date: 1976-12

5 in total

Review 1. Familial heterozygous hypobetalipoproteinemia, extrahepatic primary malignancy, and hepatocellular carcinoma.

Authors: A Lonardo; P Tarugi; G Ballarini; A Bagni
Journal: Dig Dis Sci Date: 1998-11 Impact factor: 3.199

Review 2. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.

Authors: Jooho Lee; Robert A Hegele
Journal: J Inherit Metab Dis Date: 2013-11-28 Impact factor: 4.982

Review 3. Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.

Authors: Noel Peretti; Agnès Sassolas; Claude C Roy; Colette Deslandres; Mathilde Charcosset; Justine Castagnetti; Laurence Pugnet-Chardon; Philippe Moulin; Sylvie Labarge; Lise Bouthillier; Alain Lachaux; Emile Levy
Journal: Orphanet J Rare Dis Date: 2010-09-29 Impact factor: 4.123

4. Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease).

Authors: Amandine Georges; Jessica Bonneau; Dominique Bonnefont-Rousselot; Jacqueline Champigneulle; Jean P Rabès; Marianne Abifadel; Thomas Aparicio; Jean C Guenedet; Eric Bruckert; Catherine Boileau; Alain Morali; Mathilde Varret; Lawrence P Aggerbeck; Marie E Samson-Bouma
Journal: Orphanet J Rare Dis Date: 2011-01-14 Impact factor: 4.123

5. Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis.

Authors: Mindy C W Lam; Janakie Singham; Robert A Hegele; Maziar Riazy; Matti A Hiob; Gordon Francis; Urs P Steinbrecher
Journal: Case Rep Gastroenterol Date: 2012-07-03

5 in total