Current Diagnosis and Management of Abetalipoproteinemia

Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by biallelic pathogenic mutations in the MTTP gene. Deficiency of microsomal triglyceride transfer protein (MTTP) abrogates the assembly of apolipoprotein (apo) B-containing lipoprotein in the intestine and liver, resulting in...

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Detalles Bibliográficos
Autores principales: Takahashi, Manabu, Okazaki, Hiroaki, Ohashi, Ken, Ogura, Masatsune, Ishibashi, Shun, Okazaki, Sachiko, Hirayama, Satoshi, Hori, Mika, Matsuki, Kota, Yokoyama, Shinji, Harada-Shiba, Mariko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Japan Atherosclerosis Society 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8560840/
https://www.ncbi.nlm.nih.gov/pubmed/33994405
http://dx.doi.org/10.5551/jat.RV17056

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8560840/
https://www.ncbi.nlm.nih.gov/pubmed/33994405
http://dx.doi.org/10.5551/jat.RV17056

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