Results 41 to 50 of about 1,320 (173)
JACC: Case Reports, 2020 Sitosterolemia is a rare atherogenic sterol storage disease with variability in its presentation requiring a high degree of clinical suspicion. We present 8 cases of sitosterolemia from an Amish kindred that, despite a background of decreased genetic and
Amy L. Peterson, MD +4 more
doaj +1 more source
Advances in understanding the pathogenesis of hereditary macrothrombocytopenia
British Journal of Haematology, Volume 195, Issue 1, Page 25-45, October 2021., 2021 Summary Low platelet count, or thrombocytopenia, is a common haematological abnormality, with a wide differential diagnosis, which may represent a clinically significant underlying pathology. Macrothrombocytopenia, the presence of large platelets in combination with thrombocytopenia, can be acquired or hereditary and indicative of a complex disorder ...
Janine Collins +4 more
wiley +1 more source
THE CONCISE GUIDE TO PHARMACOLOGY 2021/22: Transporters
British Journal of Pharmacology, Volume 178, Issue S1, Page S412-S513, October 2021., 2021 The Concise Guide to PHARMACOLOGY 2021/22 is the fifth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of nearly 1900 human drug targets with an emphasis on selective pharmacology (where available), plus links to the open access knowledgebase source of drug targets ...
Stephen P H Alexander +24 more
wiley +1 more source
Sitosterolemia With Atherosclerosis in a Child: A Case Report
Frontiers in Pediatrics, 2021 Introduction: Sitosterolemia is a rare condition in children and is often misdiagnosed as familial hypercholesterolemia. Serious complications can result if not treated promptly and effectively.
Hongjun Ba +9 more
doaj +1 more source
Application of high‐throughput sequencing for hereditary thrombocytopenia in southwestern China
Journal of Clinical Laboratory Analysis, Volume 35, Issue 8, August 2021., 2021 A custom target enrichment library was designed to capture 21 genes known to be associated with HTs. Twenty‐four patients with an HT phenotype were studied using this technology. One pathogenic variant on the MYH9 gene and one likely pathogenic variant on the ABCG8 gene previously known to cause HTs were identified.
Luying Zhang +7 more
wiley +1 more source
Pharmacology Research &Perspectives, Volume 9, Issue 4, August 2021., 2021 This study tested the association between markers of cholesterol metabolism (campesterol‐to‐lathosterol) against atherosclerotic cardiovascular disease and all‐cause death in non‐dialysis CKD patients. Abstract In dialysis patients, cholesterol‐lowering therapy with statins is less effective than in other high‐risk patients.
Insa E. Emrich +8 more
wiley +1 more source
Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings
JIMD Reports, Volume 59, Issue 1, Page 3-9, May 2021., 2021 Abstract Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the CYP27A1 gene encoding the mitochondrial enzyme sterol 27‐hydroxylase. Patients with CTX can present with a wide range of symptoms, but most often have evidence of tendon xanthomas along with possible cataracts,
Adam J. Guenzel +3 more
wiley +1 more source
Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report
Case Reports in Rheumatology, Volume 2021, Issue 1, 2021., 2021 Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease rarely reported in Africa. Therefore, we report a Moroccan first case report of CTX. A 20‐year‐old woman was presented in our department for bilateral swelling of the posterior aspect of ankles and the anterior aspect knees with gait disturbances evolving since the age
Mohamed Ahmed Ghassem +7 more
wiley +1 more source
Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed
Annals of Hepatology, 2017 Sitosterolemia is an autosomal recessive metabolic disease caused by mutations in ABCG5 or ABCG8 genes which encode for the (ATP)-binding cassette (ABC) transporters that are responsible for the trafficking of xenosterols.
Fateh Bazerbachi +6 more
doaj +1 more source
BMC Genetics, 2005 Background Sitosterolemia is a recessively inherited disorder in humans that is associated with premature atherosclerotic disease. Mutations in ABCG5 or ABCG8, comprising the sitosterolemia locus, STSL, are now known to cause this disease.
Tso Patrick +8 more
doaj +1 more source