Last Posted: Mar 15, 2023
- Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
Pramparo Tiziano, et al. Orphanet journal of rare diseases 2023 0 (1) 13
- Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.
Stelten Bianca M L, et al. Journal of inherited metabolic disease 2017 0 (4) 641-646
- First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.
Badura-Stronka Magdalena, et al. Clinical genetics 2021 0 (2) 190-207
- Prevalence of cerebrotendinous xanthomatosis in cases with idiopathic bilateral juvenile cataract in ophthalmology clinics in Turkey.
Atilla Huban, et al. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2021 0 (5) 269.e1-269.e6
- Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts.
Fernández-Eulate Gorka, et al. Orphanet journal of rare diseases 2022 0 (1) 434
- Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment.
Nóbrega Paulo Ribeiro et al. Frontiers in neurology 2023 131049850
- The Inherited Hypercholesterolemias.
Loh Wann Jia et al. Endocrinology and metabolism clinics of North America 2022 51(3) 511-537
- Cholestasis as a dominating symptom of patients with CYP27A1 mutations: An analysis of 17 Chinese infants.
Zhang Ping, et al. Journal of clinical lipidology 2020 12
- Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots.
Hong Xinying et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun
- Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population.
Dutta Atanu Kumar, et al. Molecular genetics and metabolism reports 2015 6 33-5
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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