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15,135 results
  • Managing the Alpha-1 patient in the ICU: Adapting broad critical care strategies in AATD. [Review]
    J Crit Care 2019; 54:212-219Rahaghi F, Omert L, … Sandhaus RA
  • Alpha-1 Antitrypsin Deficiency (AATD) is a progressive pulmonary disease under-recognized or misdiagnosed by clinicians. Patients with AATD can develop a variety of organ-specific complications and as a result, often require hospitalization and treatment within critical care and ICU settings. Due to the complexity of AATD there are minimal guidelines in place to address the specific and highly va…
  • Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management. [Review]
    Med Clin North Am 2019; 103(6):991-1003Schonfeld EA, Brown RS
  • Genetic causes of liver disease lead to a wide range of presentations. This article describes hereditary hemochromatosis, Gilbert syndrome, alpha-1 antitrypsin deficiency, Wilson disease, PFIC, BRIC, and LAL-D. The most common cause of hereditary hemochromatosis is a C282Y mutation in the HFE gene. Gilbert syndrome is a benign cause of indirect hyperbilirubinemia. Alpha-1 antitrypsin deficiency c…
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