Abetalipoproteinemia: two case reports and literature review (Q21202911)

18 August 2022

3

Rebecca L Pollex

Rebecca L

Pollex

1 reference

18 August 2022

2

Razi

Khan

Razi Khan

1 reference

18 August 2022

1

Rola

Zamel

Rola Zamel

1 reference

1034775466

Orphanet Journal of Rare Diseases

18 August 2022

language of work or name

English

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publication date

8 July 2008

8 references

14 February 2019

24 March 2019

22 April 2019

22 June 2019

8 August 2019

17 September 2019

7 November 2019

28 November 2019

8 references

14 February 2019

24 March 2019

22 April 2019

22 June 2019

8 August 2019

17 September 2019

7 November 2019

28 November 2019

3

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issue

1

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page(s)

19

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copyright license

Creative Commons Attribution 2.0 Generic

8 references

14 February 2019

24 March 2019

22 April 2019

22 June 2019

8 August 2019

17 September 2019

7 November 2019

on focus list of Wikimedia project

28 November 2019

copyright status

copyrighted

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ScienceSource

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Association of apolipoprotein E genotypes with lipid levels and coronary risk

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Malformation of the erythrocytes in a case of atypical retinitis pigmentosa

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Fat-soluble vitamin deficiency in pregnancy: a case report and review of abetalipoproteinemia.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Ophthaproblem. Vitamin A and vitamin E.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

The genetic basis of vitamin E deficiency in humans

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

The role of the microsomal triglygeride transfer protein in abetalipoproteinemia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Oral vitamin E supplements can prevent the retinopathy of abetalipoproteinaemia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Arrest of neuropathy and myopathy in abetalipoproteinemia with high-dose vitamin E therapy

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Novel mutations in abetalipoproteinaemia and homozygous familial hypobetalipoproteinaemia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Abetalipoproteinemia. Report of two cases and review of therapy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

The role of vitamin E in the treatment of the neurological features of abetalipoproteinaemia and other disorders of fat absorption

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Hypobetalipoproteinemia with abnormal prebetalipoprotein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Neurologic findings in vitamin E deficiency.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Endocrine function in abetalipoproteinemia: a study of a female patient of Greek origin.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantation

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

Abetalipoproteinemia and metastatic spinal cord glioblastoma.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467409

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

29 November 2018

1 reference

12 December 2020

DEMYELINATING CENTRAL NERVOUS SYSTEM DISEASE, MACULAR ATROPHY AND ACANTHOCYTOSIS (BASSEN-KORNZWEIG SYNDROME)

1 reference

12 December 2020

Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia

1 reference

12 December 2020

The Bassen-Kornzweig syndrome: 18 years in evolution

1 reference

12 December 2020

Hepatic failure with acanthocytosis: association with hemolytic anemia and deficiency of erythrocyte glutathione peroxidase

1 reference

12 December 2020

The cardiac lesions in Bassen-Kornzweig syndrome. Report of a case, with autopsy findings

1 reference

12 December 2020

Abetalipoproteinemia (Bassen-Kornzweig syndrome). Muscle involvement

1 reference

12 December 2020

Improved neurologic function after long-term correction of vitamin E deficiency in children with chronic cholestasis

1 reference

12 December 2020

Hepatic peroxisomal abnormalities in abetalipoproteinemia

1 reference

12 December 2020

Efficacy of water-soluble vitamin E in the treatment of vitamin E malabsorption in short-bowel syndrome

1 reference

12 December 2020

Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia

1 reference

12 December 2020

An atypical case of abetalipoproteinaemia with severe fatty liver in the absence of steatorrhoea or acanthocytosis

1 reference

12 December 2020

A mild case of abetalipoproteinaemia in association with subclinical hypothyroidism

1 reference

12 December 2020

The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22–24)

1 reference

12 December 2020

Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-3-19

0 references