Found: 16
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Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases.
- Published in:
- 2009
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- Publication type:
- journal article
Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment.
- Published in:
- 2005
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- Publication type:
- journal article
Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 24, doi. 10.1186/1750-1172-5-24
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- Publication type:
- Article
GPIHBP1 C89F Neomutation and Hydrophobic C-Terminal Domain G175R Mutation in Two Pedigrees with Severe Hyperchylomicronemia.
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- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 10, p. E1675, doi. 10.1210/jc.2011-1444
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- Publication type:
- Article
Post-Heparin LPL Activity Measurement Using VLDL As a Substrate: A New Robust Method for Routine Assessment of Plasma Triglyceride Lipolysis Defects.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096482
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- Publication type:
- Article
Combination of Circulating Antilipoprotein Lipase (Anti-LPL) Antibody and Heterozygous S172 fsX179 Mutation of LPL Gene Leading to Chronic Hyperchylomicronemia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 7, p. 3995, doi. 10.1210/jc.2005-0205
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- Publication type:
- Article
Digestive tract involvement in an infant and a child with Tangier disease.
- Published in:
- 1998
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- Publication type:
- journal article
Lipid profile and cardiovascular risk factors in pediatric liver transplant recipients.
- Published in:
- Pediatric Transplantation, 2016, v. 20, n. 2, p. 241, doi. 10.1111/petr.12664
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- Publication type:
- Article
Chylomicron retention disease: report of two cases from a Greek Island.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 11/12, p. 1191, doi. 10.1515/jpem-2012-0243
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- Publication type:
- Article
Apolipoprotein E phenotyping by isoelectric focusing in immobilized pH gradients and silver staining.
- Published in:
- Electrophoresis, 1992, v. 13, n. 1, p. 252, doi. 10.1002/elps.1150130151
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- Publication type:
- Article
Inhibitory effects of in vivo oxidized high-density lipoproteins on platelet aggregation: evidence from patients with abetalipoproteinemia.
- Published in:
- FASEB Journal, 2013, v. 27, n. 7, p. 2855, doi. 10.1096/fj.12-225169
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- Publication type:
- Article
Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene.
- Published in:
- Diagnostic Pathology, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1746-1596-8-54
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- Publication type:
- Article
Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 6, p. 1222, doi. 10.1007/s00415-011-6340-2
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- Publication type:
- Article
A Severe Form of Abetalipoproteinemia Caused by New Splicing Mutations of Microsomal Triglyceride Transfer Protein.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1191, doi. 10.1002/humu.21594
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- Publication type:
- Article
A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP).
- Published in:
- Human Mutation, 2011, v. 32, n. 7, p. 751, doi. 10.1002/humu.21494
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- Publication type:
- Article
Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2016, v. 17, n. 3, p. 251, doi. 10.1016/j.ejmhg.2015.12.003
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- Publication type:
- Article