Cargando…

Sitosterolemia: A Case Report and a Concise Literature Review

BACKGROUND: Sitosterolemia is a relatively rare metabolism lipid disorder, with about 110 cases worldwide and only a few known cases from the Middle East. Sitosterolemia is characterized by excessive uptake of phytosterols and their deposition in various tissues, leading to complications. Mutations...

Descripción completa

Detalles Bibliográficos
Autor principal:	Mahzari, Moeber M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017212/ https://www.ncbi.nlm.nih.gov/pubmed/36937651 http://dx.doi.org/10.1155/2023/4451595

Ejemplares similares

Sitosterolemia—10 years observation in two sisters
por: Veit, Lara, et al.
Publicado: (2019)

Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review
por: Huang, Dan, et al.
Publicado: (2019)

Acute Coronary Syndrome Developed in a 17-year-old Boy with Sitosterolemia Comorbid with Takayasu Arteritis: A Rare Case Report and Review of the Literature
por: Iyama, Keita, et al.
Publicado: (2021)

Sitosterolemia With Atherosclerosis in a Child: A Case Report
por: Ba, Hongjun, et al.
Publicado: (2021)

Premature Acute Myocardial Infarction in a Young Patient With Sitosterolemia
por: Yamada, Yoshihiro, et al.
Publicado: (2021)

An Unusual Occurrence of Hepatic Granulomas and Secondary Sitosterolemia in Turner Syndrome
por: Chintanaboina, JayaKrishna, et al.
Publicado: (2015)

Diagnosis and Management of Sitosterolemia 2021
por: Tada, Hayato, et al.
Publicado: (2021)

Features of chinese patients with sitosterolemia
por: Zhou, Zhizi, et al.
Publicado: (2022)

Phenotypic Variability in Atherosclerosis Burden in an Old-Order Amish Family With Homozygous Sitosterolemia
por: Peterson, Amy L., et al.
Publicado: (2020)

Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice
por: Miroshnikova, Valentina V., et al.
Publicado: (2023)

Genital Folliculosebaceous Cystic Hamartoma: A Case Report and Concise Review of the Literature
por: Daruish, Maged, et al.
Publicado: (2022)

Pediatric patients with familially inherited sitosterolemia: Two case reports
por: Su, Shun-Qing, et al.
Publicado: (2022)

Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia
por: Kiss, Sharmila, et al.
Publicado: (2020)

Homozygous Familial Hypercholesterolemia (HoFH) in Saudi Arabia and Two Cases of Lomitapide Use in a Real-World Setting
por: Mahzari, Moeber, et al.
Publicado: (2021)

Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease
por: Tada, Hayato, et al.
Publicado: (2018)

Noncholesterol Sterols and Sitosterolemia in Clinical Practice
por: Koba, Shinji
Publicado: (2020)

Dermatoses due to Quackery: A Case Snippet and Concise Review of Literature
por: Bonde, Pooja, et al.
Publicado: (2016)

Myroides bacteremia: A case report and concise review
por: Beharrysingh, Rudra
Publicado: (2017)

Mandibular metastasis of follicular thyroid carcinoma: A case report along with the concise review of literature
por: Jawanda, MK, et al.
Publicado: (2022)

A date pit induced aorto-oesophageal fistula: a case report and concise literature review
por: Lichtenstein, Kevin M, et al.
Publicado: (2021)

A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe
por: Ono, Sahoko, et al.
Publicado: (2017)

Primary testicular lymphoma with cardiac involvement in an immunocompetent patient: case report and a concise review of literature
por: Dahiya, Saurabh, et al.
Publicado: (2012)

Post-prandial Remnant Lipoprotein Metabolism in Sitosterolemia
por: Tada, Hayato, et al.
Publicado: (2018)

Postprandial Hyperlipemia is an Indication for Additional Risk in Sitosterolemia
por: Ito, Misa, et al.
Publicado: (2018)

SUN-LB011 Sitosterolemia: An Interesting Case of Normocholesterolemic Xanthomas
por: Almirante, Cheryl Lyda
Publicado: (2019)

Surgical Treatment for Unexplained Severe Pain of the Thyroid Gland: Report of Three Cases and Concise Review of the Literature
por: van Schaik, Jan, et al.
Publicado: (2011)

Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management
por: Yoo, Eun-Gyong
Publicado: (2016)

Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia
por: Hashimoto, Nobuhiro, et al.
Publicado: (2020)

The Use of Telemedicine in the Preoperative Care of Pheochromocytoma: A Systematic Review
por: Alhazmi, Abdulhameed, et al.
Publicado: (2023)

FRI094 Case Report: Treatment Of Sitosterolemia With Ezetimibe - 17 Years Of Follow-up
por: Vieira Coutinho, Jean Gabriel, et al.
Publicado: (2023)

Ovarian Torsion after Hysterectomy: Case Report and Concise Review of the Reported Cases
por: Larraín, Demetrio, et al.
Publicado: (2018)

When the virus hits suddenly: COVID-19 mimicking a subarachnoid haemorrhage—a case report and concise review of the literature
por: Pretorius, Martha, et al.
Publicado: (2022)

Nontuberculous mycobacterial infection in a patient with myelofibrosis: case report and concise review
por: Henriquez-Camacho, Cesar, et al.
Publicado: (2015)

Mycobacterium mucogenicum bacteremia in an immunocompetent host: A case report and concise review
por: Beydoun, N., et al.
Publicado: (2020)

“Shot to the Heart”: Case Report and Concise Review of Cardiac Gunshot Injury
por: Kawall, Tiffany, et al.
Publicado: (2020)

Acute TSH stimulation in vivo does not alter serum PCSK9 levels
por: Gagnon, AnneMarie, et al.
Publicado: (2014)

Sitosterolemia Exhibiting Severe Hypercholesterolemia with Tendon Xanthomas Due to Compound Heterozygous ABCG5 Gene Mutations Treated with Ezetimibe and Alirocumab
por: Tanaka, Hiroki, et al.
Publicado: (2020)

Juxta-articular tumoral calcinosis associated with the temporomandibular joint: a case report and concise review
por: Sha, Yang, et al.
Publicado: (2019)

The Challenges of Cardiac Resynchronization Therapy in Patients with Dilated Cardiomyopathy and Persistent Left Superior Vena Cava: A Case Report and Concise Literature Review
por: Pescariu, Silvius Alexandru, et al.
Publicado: (2023)

Coalescence of inter: Osteotomy bone graft material inserted via separate transcrestal sinus osteotomies: A case report and concise review of the literature
por: McCrea, Shane J. J.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_si6pv9vj2jjm7paurj878pa0tq