Suggested Topics within your search.
Suggested Topics within your search.
-
141
-
142by Moghadasian, Mohammed H.“... degree of testicular atrophy. FCP-3PI treatment prevented the development of cutaneous xanthomatosis...”
Published 2009
Get full text
-
143by Moghadasian, Mohammed H.“... degree of testicular atrophy. FCP-3PI treatment prevented the development of cutaneous xanthomatosis...”
Published 2009
Get full text
Others -
144“... reticulosis. a) Gaucher's disease. b) Generalized xanthomatosis. c) Spleno-hepatomegaly with lipoidic cells...”
Get full text
Article -
145by Ann Båvner, Marjan Shafaati, Magnus Hansson, Maria Olin, Shoshi Shpitzen, Vardiella Meiner, Eran Leitersdorf, Ingemar Björkhem“...The rare disease cerebrotendinous xanthomatosis (CTX) is due to a lack of sterol 27-hydroxylase...”
Published 2010-09-01
Get full text
Article -
146by Patryk Lipiński, Patryk Lipiński, Maja Klaudel-Dreszler, Elzbieta Ciara, Dorota Jurkiewicz, Rafał Płoski, Joanna Cielecka-Kuszyk, Piotr Socha, Irena Jankowska“... disorders responsible for 1–2% of cases of neonatal cholestasis. Among them, cerebrotendinous xanthomatosis...”
Published 2021-01-01
Get full text
Article -
147by Frank P Diekstra, Christiaan G J Saris, Wouter van Rheenen, Lude Franke, Ritsert C Jansen, Michael A van Es, Paul W J van Vught, Hylke M Blauw, Ewout J N Groen, Steve Horvath, Karol Estrada, Fernando Rivadeneira, Albert Hofman, Andre G Uitterlinden, Wim Robberecht, Peter M Andersen, Judith Melki, Vincent Meininger, Orla Hardiman, John E Landers, Robert H Brown, Aleksey Shatunov, Christopher E Shaw, P Nigel Leigh, Ammar Al-Chalabi, Roel A Ophoff, Leonard H van den Berg, Jan H Veldink“... ALS, most notably CYP27A1. Mutations in CYP27A1 are causal to cerebrotendinous xanthomatosis which can...”
Published 2012-01-01
Get full text
Article -
148by Uddenfeldt, Per“... and Gull in 1851 described the first patient with jaundice and xanthomatosis. PBC was first mentioned...”
Published 1990
Get full text
Doctoral Thesis -
149by Shan Zhang, Zunxiang Ke, Chao Yang, Peng Zhou, Huanzong Jiang, Lei Chen, Yiqing Li, Qin Li“... lipoidica diabeticorum, and eruptive xanthomatosis, may dramatically impair patients’ quality of life...”
Published 2021-03-01
Get full text
Article -
150by Paul Metz, Paul Metz, Paul Metz, Martijn J. H. Tjan, Martijn J. H. Tjan, Shaoguang Wu, Mehrosh Pervaiz, Susanne Hermans, Aishwarya Shettigar, Cynthia L. Sears, Tina Ritschel, Bas E. Dutilh, Bas E. Dutilh, Annemarie Boleij“... chenodeoxycholic acid (CDCA), currently used for treating gallstones, cerebrotendinous xanthomatosis...”
Published 2019-10-01
Get full text
Article -
151by William J. Griffiths, Ian Gilmore, Eylan Yutuc, Jonas Abdel-Khalik, Peter J. Crick, Thomas Hearn, Alison Dickson, Brian W. Bigger, Teresa Hoi-Yee Wu, Anu Goenka, Arunabha Ghosh, Simon A. Jones, Yuqin Wang“...., Smith-Lemli-Opitz syndrome and cerebrotendinous xanthomatosis. A complication in the analysis of 7-OC...”
Published 2018-01-01
Get full text
Article -
152by Laís Alves Jacinto-Scudeiro, Gustavo Dariva Machado, Annelise Ayres, Daniela Burguêz, Marcia Polese-Bonato, Carelis González-Salazar, Marina Siebert, Marina Siebert, Marcondes Cavalcante França Jr., Maira Rozenfeld Olchik, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute“...), 5 SPG11, 4 SPG5, 4 cerebrotendinous xanthomatosis (CTX), 3 SPG7 and 2 SPG3A, and 10 healthy...”
Published 2019-05-01
Get full text
Article -
153by M. Arias“... (abetalipoproteinaemia, ataxia with vitamin E deficiency, Refsum disease, cerebrotendinous xanthomatosis, Niemann-Pick...”
Published 2019-05-01
Get full text
Article -
154by M. Arias“... (abetalipoproteinaemia, ataxia with vitamin E deficiency, Refsum disease, cerebrotendinous xanthomatosis, Niemann-Pick...”
Published 2019-05-01
Get full text
Article -
155“... with the rare familial sterol storage disease, cerebrotendinous xanthomatosis (CTX) (1), secrete a number of C27...”
Get full text
Article -
156by Akira Honda, Gerald Salen, Yasushi Matsuzaki, Ashok K. Batta, Guorong Xu, Eran Leitersdorf, G. Stephen Tint, Sandra K. Erickson, Naomi Tanaka, Sarah Shefer“...Cerebrotendinous xanthomatosis (CTX) is a rare, recessively inherited lipid storage disease...”
Published 2001-02-01
Get full text
Article -
157by Sandrine Dubrac, Steven R. Lear, Meena Ananthanarayanan, Natarajan Balasubramaniyan, Jaya Bollineni, Sarah Shefer, Hideyuki Hyogo, David E. Cohen, Patricia J. Blanche, Ronald M. Krauss, Ashok K. Batta, Gerald Salen, Frederick J. Suchy, Nobuyo Maeda, Sandra K. Erickson“.... In humans, CYP27A deficiency leads to cerebrotendinous xanthomatosis. To gain insight into the roles of CYP...”
Published 2005-01-01
Get full text
Article