Results 31 to 40 of about 7,351 (200)
Small Bowel Obstruction due to Intestinal Xanthomatosis
Case Reports in Pathology, 2015 Vast majority of bowel obstruction is due to postoperative adhesions, malignancy, intestinal inflammatory disease, and hernias; however, knowledge of other uncommon causes is critical to establish a prompt treatment and decrease mortality.
L. E. Barrera-Herrera +3 more
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Molecular Genetics and Metabolism Reports, 2015 Cerebrotendinous xanthomatosis is a lipid storage disease characterized by diarrhea, cataract, tendon xanthoma and neurological regression if untreated. CYP27A1 is the only gene in which mutations are known to cause Cerebrotendinous xanthomatosis.
Atanu Kumar Dutta +8 more
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A rare metabolic disease: cerebrotendinous xanthomatosis
Van Tıp Dergisi, 2019 Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder. It occurs as a mutation in the CYP27A1 gene with nine exons in the Long arm of chromosome 2.
Tülay Kamaşak +6 more
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Unravelling new pathways of sterol metabolism [PDF]
, 2017 Purpose of reviewTo update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways.Recent findingsPatients suffering from inborn errors of sterol biosynthesis, transport and ...
Björkhem +23 more
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Atypical parkinsonism: An Update. [PDF]
, 2013 Purpose of review: This update discusses novel aspects on genetics, diagnosis, and treatments of atypical parkinsonism published over the past 2 years. Recent findings: A genome-wide association study identified new genetic risk factors for progressive ...
Hoeglinger, GU, Stamelou, M
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Homozygous familial hypercholesterolemia: case report of a rare cause of dyslipidemia Homozygotyczna rodzinna hipercholesterolemia. Opis przypadku dotyczący rzadkich przyczyn dyslipidemii [PDF]
Pediatric Endocrinology, Diabetes and Metabolism, 2011 A 4-year-old boy was evaluated for severe hypercholesterolemia (cholesterol: 831 mg/dL) and disseminated xanthomas. Both parents had hypercholesterolemia: mother (cholesterol: 308 mg/dL) and father (cholesterol: 281 mg/dL). There was no family history of
Cresio Alves, Zilda Braid
doaj
Bilateral xanthomas of tendoachilles in a patient of cerebro-tendinous xanthomatosis: A case report
Journal of Dr. NTR University of Health Sciences, 2016 Cerebro-tendinous xanthomatosis is a very rare autosomal recessive disorder. An 18-year-old male presented to us with swellings of both tendoachilles, proved to be xanthomas. The diagnosis was confirmed by biochemical, clinical, and radiological studies.
Vutukuru Sri Ravindranath +3 more
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Vitamin D: Newer Concepts of Its Metabolism and Function at the Basic and Clinical Level. [PDF]
, 2020 The interest in vitamin D continues unabated with thousands of publications contributing to a vast and growing literature each year. It is widely recognized that the vitamin D receptor (VDR) and the enzymes that metabolize vitamin D are found in many ...
Bikle, Daniel D
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