脑腱黄瘤病：是否应列入美国医学遗传学与基因组学学会（ACMG）的次要发现清单？ - Suppr

Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?

作者信息

Khouj Ebtissal, Bohlega Saeed, Alkuraya Fowzan S

机构信息

Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

出版信息

Clin Genet. 2023 Jan;103(1):125-126. doi: 10.1111/cge.14230. Epub 2022 Sep 21.

DOI:10.1111/cge.14230

PMID:36129065

Abstract

摘要

相似文献

Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?

Clin Genet. 2023 Jan;103(1):125-126. doi: 10.1111/cge.14230. Epub 2022 Sep 21.

Cerebrotendinous xanthomatosis: a review of biochemical findings of the patient population in The Netherlands.

J Inherit Metab Dis. 1988;11(1):56-75. doi: 10.1007/BF01800057.

Cerebrotendinous xanthomatosis without tendon xanthomas mimicking Marinesco-Sjoegren syndrome: a case report.

J Neurol Neurosurg Psychiatry. 1996 May;60(5):582-5. doi: 10.1136/jnnp.60.5.582.

Biosynthesis of bile acids in cerebrotendinous xanthomatosis. Relationship of bile acid pool sizes and synthesis rates to hydroxylations at C-12, C-25, and C-26.

J Clin Invest. 1985 Aug;76(2):744-51. doi: 10.1172/JCI112030.

Detection of carriers of cerebrotendinous xanthomatosis.

Clin Chim Acta. 1986 Jul 30;158(2):179-85. doi: 10.1016/0009-8981(86)90234-2.

Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report.

Ann Rehabil Med. 2017 Apr;41(2):313-317. doi: 10.5535/arm.2017.41.2.313. Epub 2017 Apr 27.

Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat.

Pediatrics. 2009 Jan;123(1):143-7. doi: 10.1542/peds.2008-0192.

Accumulation of 7 alpha-hydroxy-4-cholesten-3-one and cholesta-4,6-dien-3-one in patients with cerebrotendinous xanthomatosis: effect of treatment with chenodeoxycholic acid.

Hepatology. 1987 Mar-Apr;7(2):266-71. doi: 10.1002/hep.1840070210.

[Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects].

Rev Neurol (Paris). 2014 Jun-Jul;170(6-7):445-53. doi: 10.1016/j.neurol.2014.01.675. Epub 2014 Apr 16.

Cerebrotendinous xanthomatosis revisited.

Pract Neurol. 2021 Jun;21(3):243-245. doi: 10.1136/practneurol-2020-002895. Epub 2021 Apr 14.

引用本文的文献

Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia.

Mol Genet Metab Rep. 2025 Jan 13;42:101188. doi: 10.1016/j.ymgmr.2025.101188. eCollection 2025 Mar.

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Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?

Clin Genet. 2023 Jan;103(1):125-126. doi: 10.1111/cge.14230. Epub 2022 Sep 21.

Cerebrotendinous xanthomatosis: a review of biochemical findings of the patient population in The Netherlands.

J Inherit Metab Dis. 1988;11(1):56-75. doi: 10.1007/BF01800057.

Cerebrotendinous xanthomatosis without tendon xanthomas mimicking Marinesco-Sjoegren syndrome: a case report.

J Neurol Neurosurg Psychiatry. 1996 May;60(5):582-5. doi: 10.1136/jnnp.60.5.582.

Biosynthesis of bile acids in cerebrotendinous xanthomatosis. Relationship of bile acid pool sizes and synthesis rates to hydroxylations at C-12, C-25, and C-26.

J Clin Invest. 1985 Aug;76(2):744-51. doi: 10.1172/JCI112030.

Detection of carriers of cerebrotendinous xanthomatosis.

Clin Chim Acta. 1986 Jul 30;158(2):179-85. doi: 10.1016/0009-8981(86)90234-2.

Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report.

Ann Rehabil Med. 2017 Apr;41(2):313-317. doi: 10.5535/arm.2017.41.2.313. Epub 2017 Apr 27.

Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat.

Pediatrics. 2009 Jan;123(1):143-7. doi: 10.1542/peds.2008-0192.

Accumulation of 7 alpha-hydroxy-4-cholesten-3-one and cholesta-4,6-dien-3-one in patients with cerebrotendinous xanthomatosis: effect of treatment with chenodeoxycholic acid.

Hepatology. 1987 Mar-Apr;7(2):266-71. doi: 10.1002/hep.1840070210.

[Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects].

Rev Neurol (Paris). 2014 Jun-Jul;170(6-7):445-53. doi: 10.1016/j.neurol.2014.01.675. Epub 2014 Apr 16.

Cerebrotendinous xanthomatosis revisited.

Pract Neurol. 2021 Jun;21(3):243-245. doi: 10.1136/practneurol-2020-002895. Epub 2021 Apr 14.

引用本文的文献

Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia.

Mol Genet Metab Rep. 2025 Jan 13;42:101188. doi: 10.1016/j.ymgmr.2025.101188. eCollection 2025 Mar.

Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?

作者信息

Khouj Ebtissal, Bohlega Saeed, Alkuraya Fowzan S

机构信息

Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

出版信息

Clin Genet. 2023 Jan;103(1):125-126. doi: 10.1111/cge.14230. Epub 2022 Sep 21.

DOI:10.1111/cge.14230

PMID:36129065

Abstract

摘要

Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?

作者信息

机构信息

出版信息

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引用本文的文献

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Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?

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