Works matching DE "CEREBROTENDINOUS xanthomatosis"

Results: 33

A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor.

Published in:

Tremor & Other Hyperkinetic Movements, 2018, p. 1, doi. 10.7916/D8X07Q2N

By:

Rossi, Malco;
Cesarini, Martin;
Gatto, Emilia M.;
Cammarota, Angel;
Merello, Marcelo

Publication type:

Article

Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.

Published in:

2016

By:

Huidekoper, Hidde;
Vaz, Frédéric;
Verrips, Aad;
Bosch, Annet;
Huidekoper, Hidde H;
Vaz, Frédéric M;
Bosch, Annet M

Publication type:

journal article

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

Published in:

Annals of Rehabilitation Medicine, 2017, v. 41, n. 2, p. 313, doi. 10.5535/arm.2017.41.2.313

By:

Jung Yoon Yoon;
Min-Wook Kim;
Hyun Jung Do;
Dae-Hyun Jang;
Hee Won Lee

Publication type:

Article

Cerebrotendinous xanthomatosis without skin changes: Diagnostic delay and confirmation by genetic analysis.

Published in:

Indian Pediatrics, 2016, v. 53, n. 10, p. 917, doi. 10.1007/s13312-016-0960-7

By:

Kulkarni, Shilpa;
Garg, Meenal;
Sayed, Rafat

Publication type:

Article

Cerebrotendinous Xanthomatosis: The Effectiveness of High-Dose Piracetam for the Treatment of Cerebellar and Sensorial Ataxia.

Published in:

2014

By:

Uygunoglu, Ugur;
Gunduz, Aysegul;
Menku, Sukriye;
Yilmaz, Basak;
Hatipoglu, Esra;
Yalcinkaya, Cengiz;
Saip, Sabahattin;
Apaydin, Hulya

Publication type:

Report

Late-onset spinal form xanthomatosis without brain lesion: a case report.

Published in:

2016

By:

Masaru Yanagihashi;
Osamu Kano;
Tomoya Terashima;
Yuji Kawase;
Sayori Hanashiro;
Masahiro Sawada;
Yuichi Ishikawa;
Nobuyuki Shiraga;
Ken Ikeda;
Yasuo Iwasaki;
Yanagihashi, Masaru;
Kano, Osamu;
Terashima, Tomoya;
Kawase, Yuji;
Hanashiro, Sayori;
Sawada, Masahiro;
Ishikawa, Yuichi;
Shiraga, Nobuyuki;
Ikeda, Ken;
Iwasaki, Yasuo

Publication type:

journal article

Cerebrotendinous xanthomatosis and Marfan syndrome - A picturesque combination.

Published in:

2016

By:

Bhatkar, Sanat;
Mehta, Sahil;
Wilson, Vinny;
Lal, Vivek

Publication type:

journal article

Cerebrotendinous xanthomatosis with a novel mutation in CYP27A1 gene in a Turkish patient.

Published in:

Annals of Medical of Research, 2020, v. 27, n. 8, p. 2200, doi. 10.5455/annalsmedres.2020.03.254

By:

Dikbas, Oguz;
Torun, Deniz;
Ilgezdi, Irem;
Eyuboglu, Ilker;
Unlu, Burcu

Publication type:

Article

Cerebrotendinous xanthomatosis.

Published in:

2016

By:

Muniaswamy, Mahalakshmi;
Rengasamy, Madhu;
Aravamuthan, Ramesh;
Krishnasamy, Manoharan

Publication type:

Letter to the Editor

Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood.

Published in:

2016

By:

Degos, Bertrand;
Nadjar, Yann;
del Mar Amador, Maria;
Lamari, Foudil;
Sedel, Frédéric;
Roze, Emmanuel;
Couvert, Philippe;
Mochel, Fanny;
Amador, Maria Del Mar

Publication type:

Letter

Bilateral xanthomas of tendoachilles in a patient of cerebro-tendinous xanthomatosis: A case report.

Published in:

2016

By:

Ravindranath, Vutukuru Sri;
Sastry, V. R. K.;
Sharma, Varun;
Sravanthi, V. L.

Publication type:

Case Study

Glioblastoma multiforme versus pleomorphic xanthoastrocytoma with anaplastic features in the pathological diagnosis: a case report.

Published in:

Diagnostic Pathology, 2016, v. 11, p. 1, doi. 10.1186/s13000-016-0514-2

By:

Shoko M. Yamada;
Hideki Murakami;
Yusuke Tomita;
Makoto Nakane;
Soichiro Shibui;
Mikiko Takahashi;
Masashi Kawamoto

Publication type:

Article

Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene.

Published in:

2018

By:

Jiao, H.;
Olin, M.;
Hansson, M.;
Eggertsen, G.;
Eriksson, M.;
Angelin, B.;
Björkhem, I.

Publication type:

Case Study

Physiopathology of necrobiotic xanthogranuloma with monoclonal gammopathy.

Published in:

Journal of Internal Medicine, 2014, v. 276, n. 3, p. 269, doi. 10.1111/joim.12195

By:

Szalat, R.;
Pirault, J.;
Fermand, J.‐P.;
Carrié, A.;
Saint‐Charles, F.;
Olivier, M.;
Robillard, P.;
Frisdal, E.;
Villard, E. F.;
Cathébras, P.;
Bruckert, E.;
Chapman, M. John;
Giral, P.;
Guerin, M.;
Lesnik, P.;
Goff, W. Le

Publication type:

Article

Adult-Onset Treatable Leukodystrophy: Cerebrotendinous Xanthomatosis.

Published in:

Neuropsychiatric Investigation, 2022, v. 60, n. 4, p. 106, doi. 10.5152/NeuropsychiatricInvest.2022.22008

By:

Şenel, Gülçin Benbir;
Abbaszade, Hikmet;
Tekgül, Şeyma;
Başak, Nazlı;
Apaydın, Hülya

Publication type:

Article

Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.

Published in:

2014

By:

Mandrile, Giorgia;
Gallus, Gian;
Mura, Giuseppe;
Sapio, Alessia;
Sotgiu, Maria;
Montella, Andrea;
Giachino, Daniela;
Dotti, Maria;
Ulgheri, Lucia;
Federico, Antonio

Publication type:

Letter

Small Bowel Obstruction due to Intestinal Xanthomatosis.

Published in:

2015

By:

Barrera-Herrera, L. E.;
Arias, F.;
Rodríguez-Urrego, P. A.;
Palau-Lázaro, M. A.

Publication type:

Case Study

Cytological diagnosis of cerebrotendinous xanthomatosis in two siblings presenting with bilateral ankle swellings and neurological decline.

Published in:

2018

By:

Nambirajan, A.;
Sashidharan, A.;
Garg, A.;
Dash, D.;
Bhatia, R.;
Sharma, M. C.;
Mathur, S. R.

Publication type:

Case Study

Four New Cases of Progressive Ataxia and Palatal Tremor (PAPT) and a Literature Review.

Published in:

Clinical & Translational Neuroscience, 2023, v. 7, n. 4, p. 1, doi. 10.3390/ctn7040032

By:

Silimon, Norbert;
Wiest, Roland;
Bassetti, Claudio L. A.

Publication type:

Article

The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis.

Published in:

Journal of Physiology, 2017, v. 595, n. 11, p. 3607, doi. 10.1113/JP273670

By:

Rosini, Francesca;
Pretegiani, Elena;
Mignarri, Andrea;
Optican, Lance M.;
Serchi, Valeria;
Stefano, Nicola;
Battaglini, Marco;
Monti, Lucia;
Dotti, Maria T.;
Federico, Antonio;
Rufa, Alessandra

Publication type:

Article

Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report.

Published in:

2016

By:

Syed Mohd Razi;
Gupta, Abhinav Kumar;
Gupta, Deepak Chand;
Gutch, Manish;
Gupta, Keshav Kumar;
Usman, Syeda Iqra;
Razi, Syed Mohd

Publication type:

journal article

LOCALIZED XANTHOMATOSIS OF ORAL MUCOSA IN A PATIENT WITH CUSHING'S DISEASE.

Published in:

2013

By:

Ma, J.;
Ren, F.;
Wei, S.;
Li, J.

Publication type:

Case Study

Cerebral Xanthoma in a Peron's Tree Frog ( Litoria peronii).

Published in:

Journal of Herpetological Medicine & Surgery, 2015, v. 25, n. 1/2, p. 21, doi. 10.5818/1529-9651-25.1.21

By:

Hill, Andrew Gordon;
Mackie, John Thomas

Publication type:

Article

Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.

Published in:

Journal of Neurology, 2018, v. 265, n. 2, p. 388, doi. 10.1007/s00415-017-8711-9

By:

Catarino, Claudia B.;
Vollmar, Christian;
Küpper, Clemens;
Seelos, Klaus;
Gallenmüller, Constanze;
Bartkiewicz, Joanna;
Biskup, Saskia;
Hörtnagel, Konstanze;
Klopstock, Thomas

Publication type:

Article

The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression.

Published in:

Journal of Neurology, 2017, v. 264, n. 5, p. 862, doi. 10.1007/s00415-017-8440-0

By:

Mignarri, Andrea;
Dotti, Maria;
Federico, Antonio;
Stefano, Nicola;
Battaglini, Marco;
Grazzini, Irene;
Galluzzi, Paolo;
Monti, Lucia

Publication type:

Article

Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies.

Published in:

Journal of Neurology, 2016, v. 263, n. 12, p. 2361, doi. 10.1007/s00415-016-8131-2

By:

Ayrignac, Xavier;
Boutiere, Clemence;
Carra-dalliere, Clarisse;
Labauge, Pierre

Publication type:

Article

Psychiatric signs and symptoms in treatable inborn errors of metabolism.

Published in:

Journal of Neurology, 2014, v. 261, p. 559, doi. 10.1007/s00415-014-7396-6

By:

Nia, S.

Publication type:

Article

Nota Clínica: Trastorno bipolar en xantomatosis cerebrotendinosa: a propósito de un caso.

Published in:

Actas Espanolas de Psiquiatria, 2021, v. 49, n. 2, p. 85

By:

Migoya-Borja, Marta;
Cegla-Schvartzman, Fanny;
Palomar-Ciria, Nora;
Iza, Miren;
Barrigón, María Luisa;
Baca-García, Enrique

Publication type:

Article

Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series.

Published in:

2017

By:

Zádori, Dénes;
Szpisjak, László;
Madar, László;
Varga, Viktória;
Csányi, Bernadett;
Bencsik, Krisztina;
Balogh, István;
Harangi, Mariann;
Kereszty, Éva;
Vécsei, László;
Klivényi, Péter;
Varga, Viktória Evelin

Publication type:

journal article

A Multiplex Phytosterol Assay Utilizing Gas Chromatography-Mass Spectrometry for Diagnosis of Inherited Lipid Storage Disorders.

Published in:

Annals of Laboratory Medicine, 2019, v. 39, n. 4, p. 411, doi. 10.3343/alm.2019.39.4.411

By:

Joon Hee Lee;
Kyunghoon Lee;
Sun-Hee Jun;
Sang Hoon Song;
Choong Ho Shin;
Junghan Song

Publication type:

Article

Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 5, p. 1609, doi. 10.1007/s11011-017-0047-8

By:

Chen, Chen;
Zhang, Yue;
Wu, Hui;
Sun, Yi-Min;
Cai, Ye-Hua;
Wu, Jian-Jun;
Wang, Jian;
Gong, Ling-Yun;
Ding, Zheng-Tong

Publication type:

Article

A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 2, p. 311, doi. 10.1007/s11011-017-9971-x

By:

Abdel-Hamid, Mohamed;
Issa, Mahmoud;
Otaify, Ghada;
Zaki, Maha

Publication type:

Article

Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports.

Published in:

Metabolic Brain Disease, 2016, v. 31, n. 5, p. 1185, doi. 10.1007/s11011-016-9841-y

By:

Di Taranto, Maria;
Gelzo, Monica;
Giacobbe, Carola;
Gentile, Marco;
Marotta, Gennaro;
Savastano, Silvia;
Dello Russo, Antonio;
Fortunato, Giuliana;
Corso, Gaetano

Publication type:

Article