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Current Diagnosis and Management of Abetalipoproteinemia
J Atheroscler Thromb. 2021 May 16. doi: 10.5551/jat.RV17056. Online ahead of print.ABSTRACTAbetalipoproteinemia (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 malabsorption of fat and fat-soluble vitamins and severe hypolipidemia. Patients with ABL typically manifest steatorrhea, vomiting, and failure to thrive in infancy. The deficiency of fat-soluble vitamins progressively develops into a vari...
Source: Journal of Atherosclerosis and Thrombosis - May 17, 2021 Category: Cardiology Authors: Manabu Takahashi Hiroaki Okazaki Ken Ohashi Masatsune Ogura Shun Ishibashi Sachiko Okazaki Satoshi Hirayama Mika Hori Kota Matsuki Shinji Yokoyama Mariko Harada-Shiba Committee on Primary Dyslipidemia under the Research Program on Rare and Intractable Dis Source Type: research

Digitalization and Pharma, Opportunity or Irrelevance?
The pace of healthcare evolution and change is not slowing. This offers opportunities to pharma companies to positively support and ease the pain of transition and change and digital technology provides a means of fulfilling these opportunities. Cost control and outcome-based care Government and payors are creating and experiencing increasing pressure to manage costs, including the purchase and use of medicine. Being accepted and retained on formularies may be influenced by more cost-effective delivery and compliance processes, supported digitally. For example, sensors and personal dispensing devices can collect and analys...
Source: EyeForPharma - May 31, 2016 Category: Pharmaceuticals Authors: Pamela Walker Source Type: news