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Year Number of Results
2018 3
2019 8
2020 9
2021 10
2022 6
2023 4
2024 1

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35 results

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Page 1
Guidance for the diagnosis and treatment of hypolipidemia disorders.
Bredefeld C, Hussain MM, Averna M, Black DD, Brin MF, Burnett JR, Charrière S, Cuerq C, Davidson NO, Deckelbaum RJ, Goldberg IJ, Granot E, Hegele RA, Ishibashi S, Karmally W, Levy E, Moulin P, Okazaki H, Poinsot P, Rader DJ, Takahashi M, Tarugi P, Traber MG, Di Filippo M, Peretti N. Bredefeld C, et al. J Clin Lipidol. 2022 Nov-Dec;16(6):797-812. doi: 10.1016/j.jacl.2022.08.009. Epub 2022 Sep 29. J Clin Lipidol. 2022. PMID: 36243606 Free article. Review.
The Abetalipoproteinemia and Related Disorders Foundation was established in 2019 to provide guidance and support for the life-long management of inherited hypocholesterolemia disorders. ...In this review, we focus on abetalipoproteinemia, homozygous hypobetalipopro …
The Abetalipoproteinemia and Related Disorders Foundation was established in 2019 to provide guidance and support for the life-long m …
Hypotriglyceridemias/hypolipidemias.
Martínez-Hervás S, Real-Collado JT, Ascaso-Gimilio JF. Martínez-Hervás S, et al. Clin Investig Arterioscler. 2021 May;33 Suppl 2:63-68. doi: 10.1016/j.arteri.2020.12.011. Clin Investig Arterioscler. 2021. PMID: 34006356 Review. English, Spanish.
Low cholesterol states: clinical implications and management.
Gill PK, Hegele RA. Gill PK, et al. Expert Rev Endocrinol Metab. 2023 May;18(3):241-253. doi: 10.1080/17446651.2023.2204932. Epub 2023 Apr 23. Expert Rev Endocrinol Metab. 2023. PMID: 37089071 Review.
AREAS COVERED: Monogenic hypocholesterolemia disorders caused by the complete absence of apolipoprotein (apo) B-containing lipoproteins (abetalipoproteinemia and homozygous hypobetalipoproteinemia) or an isolated absence of apo B-48 lipoproteinemia (chylomicron retention d …
AREAS COVERED: Monogenic hypocholesterolemia disorders caused by the complete absence of apolipoprotein (apo) B-containing lipoproteins ( …
Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease.
Welty FK. Welty FK. Curr Opin Lipidol. 2020 Apr;31(2):49-55. doi: 10.1097/MOL.0000000000000663. Curr Opin Lipidol. 2020. PMID: 32039990 Review.
PURPOSE OF REVIEW: Several mutations in the apolipoprotein (apo) B, proprotein convertase subtilisin kexin 9 (PCSK9) and microsomal triglyceride transfer protein genes result in low or absent levels of apoB and LDL cholesterol (LDL-C) in plasma which cause familial hypobetalipopr …
PURPOSE OF REVIEW: Several mutations in the apolipoprotein (apo) B, proprotein convertase subtilisin kexin 9 (PCSK9) and microsomal triglyce …
Current Diagnosis and Management of Abetalipoproteinemia.
Takahashi M, Okazaki H, Ohashi K, Ogura M, Ishibashi S, Okazaki S, Hirayama S, Hori M, Matsuki K, Yokoyama S, Harada-Shiba M. Takahashi M, et al. J Atheroscler Thromb. 2021 Oct 1;28(10):1009-1019. doi: 10.5551/jat.RV17056. Epub 2021 May 16. J Atheroscler Thromb. 2021. PMID: 33994405 Free PMC article. Review.
Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by biallelic pathogenic mutations in the MTTP gene. ...
Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by biallelic pathogenic mutations in the MTTP gene. ...
Rare Diseases Related with Lipoprotein Metabolism.
Zhou H, Gong Y, Wu Q, Ye X, Yu B, Lu C, Jiang W, Ye J, Fu Z. Zhou H, et al. Adv Exp Med Biol. 2020;1276:171-188. doi: 10.1007/978-981-15-6082-8_11. Adv Exp Med Biol. 2020. PMID: 32705600 Review.
Few rare diseases related with lipoprotein metabolism were clustered into six sections based on changes in lipid profile, namely, hyper- or hypocholesterolemia, hypo- or hyperalphalipoproteinemia, abetalipoproteinemia, hypobetalipoproteinemia, and sphingolipid metabolism d …
Few rare diseases related with lipoprotein metabolism were clustered into six sections based on changes in lipid profile, namely, hyper- or …
Microsomal Triglyceride Transfer Protein: From Lipid Metabolism to Metabolic Diseases.
Iqbal J, Jahangir Z, Al-Qarni AA. Iqbal J, et al. Adv Exp Med Biol. 2020;1276:37-52. doi: 10.1007/978-981-15-6082-8_4. Adv Exp Med Biol. 2020. PMID: 32705593 Review.
Its critical role in the assembly and secretion of apoB-containing lipoproteins was identified in abetalipoproteinemia patients who have mutations in MTP and completely lack apoB-containing lipoproteins in the circulation. ...
Its critical role in the assembly and secretion of apoB-containing lipoproteins was identified in abetalipoproteinemia patients who h …
Prospective Registry Study of Primary Dyslipidemia (PROLIPID): Rationale and Study Design.
Tada H, Kurashina T, Ogura M, Takegami M, Miyamoto Y, Arai H, Harada-Shiba M, Ishibashi S. Tada H, et al. J Atheroscler Thromb. 2022 Jun 1;29(6):953-969. doi: 10.5551/jat.63222. Epub 2021 Oct 22. J Atheroscler Thromb. 2022. PMID: 34690220 Free PMC article.
The Japanese Ministry of Health, Labor and Welfare (MHLW) covers medical expenses, under the Research Program on Rare and Intractable Diseases, for homozygous familial hypercholesterolemia (FH), familial chylomicronemia, sitosterolemia, cerebrotendinous xanthomatosis, lecithin:ch …
The Japanese Ministry of Health, Labor and Welfare (MHLW) covers medical expenses, under the Research Program on Rare and Intractable Diseas …
35 results