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+44 28 3718 0055Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790
Alfonso Quint?s-Cardama Author
Subjects of specialization
Affiliation
Abnormal hemoglobins
Department of Leukemia, M.D. Anderson Cancer Center, Houston, TX, USA
Biography
Alfonso Quintás-Cardama belongs to Department of Leukemia intrested in the field Abnormal hemoglobins; Hemoglobin E; Hemoglobin J; Sickle cell carriers; Indian tribe; Chhattisgarh; Endemic malaria from M.D. Anderson Cancer Center, Houston, TX, USA
Publications
Case Report Subscription
Long-Term Follow-Up of a Patient with Sitosterolemia and Hemolytic Anemia with Excellent Response to Ezetimibe
Author(s): Alfonso Quint?s-Cardama and John J. McCarthy
Long-Term Follow-Up of a Patient with Sitosterolemia and Hemolytic Anemia with Excellent Response to Ezetimibe
Sitosterolemia (MIM #210250), also known as phytosterolemia, first described in 1974, is characterized by disruption of the normal homeostatic mechanisms that regulate dietary cholesterol absorption and prevent the accumulation of non-cholesterol sterols. Phytosterols are almost undetectable in plasma from normal individuals. Sitosterolemia is inherited in an autosomal recessive fashion and results from mutations in two genes at the STSL locus that maps to human chromosome 2p21: the ATP-binding cassette,subfamily G, members 5 and 8 (ABCG5 and ABCG8), that encode two ... view more»
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