Literature DB >> 8468594

Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism.

A Federico1, M T Dotti, F Loré, R Nuti.   

Abstract

A condition of osteopenia in some cerebrotendinous xanthomatosis (CTX) patients led us to investigate bone metabolism in 8 patients belonging to 5 families. Serum calcium, phosphate and vitamin D metabolites were in the normal range; a reduction in total body density and impairment of intestinal radiocalcium absorption were found in the majority of our patients.

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Year:  1993        PMID： 8468594     DOI： 10.1016/0022-510x(93)90068-a

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


  14 in total

1.  The endogenous selective estrogen receptor modulator 27-hydroxycholesterol is a negative regulator of bone homeostasis.

Authors:  Carolyn D DuSell; Erik R Nelson; Xiaojuan Wang; Jennifer Abdo; Ulrike I Mödder; Michihisa Umetani; Diane Gesty-Palmer; Norman B Javitt; Sundeep Khosla; Donald P McDonnell
Journal:  Endocrinology       Date:  2010-05-25       Impact factor: 4.736

2.  Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings.

Authors:  M T Dotti; A Rufa; A Federico
Journal:  J Inherit Metab Dis       Date:  2001-12       Impact factor: 4.982

3.  Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis.

Authors:  A Mignarri; S Rossi; M Ballerini; G N Gallus; M Del Puppo; P Galluzzi; A Federico; M T Dotti
Journal:  J Neurol       Date:  2010-11-21       Impact factor: 4.849

4.  NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.

Authors:  Ayaz Khan; Shixiong Tian; Muhammad Tariq; Sheraz Khan; Muhammad Safeer; Naimat Ullah; Nazia Akbar; Iram Javed; Mahnoor Asif; Ilyas Ahmad; Shahid Ullah; Humayoon Shafique Satti; Raees Khan; Muhammad Naeem; Mahwish Ali; John Rendu; Julien Fauré; Klaus Dieterich; Xenia Latypova; Shahid Mahmood Baig; Naveed Altaf Malik; Feng Zhang; Tahir Naeem Khan; Chunyu Liu
Journal:  Mol Genet Genomics       Date:  2022-08-24       Impact factor: 2.980

5.  Cerebrotendinous xanthomatosis: a rare disorder with a rare presentation.

Authors:  N K Agrawal; Sunny Garg
Journal:  BMJ Case Rep       Date:  2012-09-21

6.  Mutational analysis of CYP27A1: assessment of 27-hydroxylation of cholesterol and 25-hydroxylation of vitamin D.

Authors:  Ram P Gupta; Kennerly Patrick; Norman H Bell
Journal:  Metabolism       Date:  2007-09       Impact factor: 8.694

Review 7.  Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).

Authors:  Gerald Salen; Robert D Steiner
Journal:  J Inherit Metab Dis       Date:  2017-10-04       Impact factor: 4.982

8.  Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.

Authors:  Pelin Teke Kısa; Gonca Kilic Yildirim; Burcu Ozturk Hismi; Sevil Dorum; Ozge Yilmaz Kusbeci; Ali Topak; Figen Baydan; Fatma Nazlı Durmaz Celik; Orhan Gorukmez; Zumrut Arslan Gulten; Arzu Ekici; Serhat Ozkan; Aylin Yaman; Nur Arslan
Journal:  Metab Brain Dis       Date:  2021-03-11       Impact factor: 3.584

Review 9.  Psychiatric manifestations in cerebrotendinous xanthomatosis.

Authors:  M J Fraidakis
Journal:  Transl Psychiatry       Date:  2013-09-03       Impact factor: 6.222

Review 10.  Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.

Authors:  Shuke Nie; Guiqin Chen; Xuebing Cao; Yunjian Zhang
Journal:  Orphanet J Rare Dis       Date:  2014-11-26       Impact factor: 4.123
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