Severe polyarterial involvement in a 16-year-old with homozygous familial hypercholesterolaemia: a case report. [PDF]
Eur Heart J Case RepBenabdellah M +4 more
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Longitudinal management and novel pharmacological interactions in a patient with HeFH, 21-OHD, and kawasaki disease: a 6-year clinical follow-up. [PDF]
Front Endocrinol (Lausanne)Zhang Y, Yuan X, Yang X, Chen R.
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From Eruptive Xanthoma to Acute Pancreatitis: Clinical Warning and Implications of Rapid Disease Progression. [PDF]
Int Med Case Rep JZhu Y, He X, Lan Y, Deng Y.
europepmc +1 more source
Bilateral Tendoachilles Xanthoma in a Young Female: A Rare Case Report. [PDF]
J Orthop Case RepKumar H, Seth A, Chaudhary M, Saini N.
europepmc +1 more source
Sitosterolemia carrying both ABCG5 and HBA gene mutations: a case report and review of the literature. [PDF]
J Med Case RepSun X +6 more
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Genome sequencing identifies uniparental isodisomy of chromosome 2p and a homozygous <i>ABCG5</i> variant, enabling effective treatment of pediatric hypercholesterolemia after 13 years of therapeutic resistance: A case report. [PDF]
Biomed RepKassaie H +6 more
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Discordance in diagnostic assessment of Achilles tendon thickening between soft X-ray radiography and ultrasonography among patients with coronary artery disease. [PDF]
Sci RepItagaki T +13 more
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Heterozygous CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report. [PDF]
J Med Case RepOyama Y +5 more
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