Results 71 to 80 of about 6,190 (205)

Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis

, 2017
Item does not contain fulltextBACKGROUND: This report highlights the differential diagnosis of predominant cerebellar white matter abnormalities with dentate nuclei involvement.
Marjo S. van der Knaap, Aad Verrips, Knaap, M.S. van der, Stelten, B.M.L., Stelten, Bianca M.L., Verrips, Aad, Bianca M.L. Stelten, Wevers, Ron A., Ron A. Wevers, van der Knaap, Marjo S., Verrips, A., Wevers, R.A.   +11 more
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High levels of plant sterols and cholesterol precursors in cerebrotendinous xanthomatosis.

Journal of Lipid Research, 1991
We measured the cholestanol, cholesterol precursor (lathosterol), and plant sterol (campesterol and sitosterol) concentrations of serum and bile in 11 patients with cerebrotendinous xanthomatosis.
M Kuriyama, J Fujiyama, T Kasama, M Osame   +3 more
doaj   +1 more source

The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Andrea Pietrobattista, Diego Martinelli, Marco Spada, Carlo Dionisi‐Vici   +3 more
wiley   +1 more source

Cerebrotendinous xanthomatosis: report of two Brazilian brothers. [PDF]

, 2004
Contains fulltext : 58819.pdf (Publisher’s version ) (Open Access)Cerebrotendinous xanthomatosis is a treatable rare autossomal recessive disease characterized by lipid storage secondary to a sterol 27-hydroxylase deficiency in the ...
Pereira, Eduardo R., Zavala, Jorge A., Flumignan Zétola, Viviane, Ana Paula Trentin, Werneck, L.C., Pereira, E.R., Sistermans, Erik A., Salmo Raskin, Trentin, Ana Paula, Zavala, J.A., Raskin, Salmo, Jorge A. Zavala, Scola, R.H., Eduardo R. Pereira, Lange, M.C., Raskin, S., Scola, Rosana H., Lineu C. Werneck, Viviane Flumignan Zétola, Teive, Helio A.G., Marcos Christiano Lange, Rosana H. Scola, Erik A. Sistermans, Zetola, V.F., Werneck, Lineu C., Lange, Marcos Christiano, Trentin, A.P., Sistermans, E.A., Helio A.G. Teive, Teive, H.   +29 more
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Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Movement disorders are common in inherited metabolic diseases (IMDs) and significantly impact quality of life. Unfortunately, they are often underrecognised by metabolic physicians. This study investigated whether a new screening tool improves recognition of movement disorders in IMD patients by non‐neurologists.
Ellen M. Hulshof, Hugo P. Lantinga, Gonnie Alkemade, Annet M. Bosch, Marion M. Brands, Danique Draaisma‐van Vliet, Andrea B. Haijer‐Schreuder, Eva M. M. Hoytema van Konijnenburg, Mirian C. H. Janssen, Melanie M. van der Klauw, Mirjam Langeveld, Charlotte M. A. Lubout, Sonja L. van Ockenburg, Esmeralda Oussoren, Bianca Panis, Barbara Sjouke, Maaike de Vries, Margreet A. E. M. Wagenmakers, Mark Wijnen, Deborah A. Sival, Marina A. J. Tijssen, Tom J. de Koning, Lisette H. Koens   +22 more
wiley   +1 more source

Diffuse plane xanthomatosis associated with monoclonal gammopathy [PDF]

, 2011
Diffuse plane normolipemic xanthomatosis (DPNX) is a rare, non-inherited disease that is often associated with systemic diseases, mainly malignant hematological (especially multiple myeloma) or lymph proliferative disorders.
Isabel Amorim, Iolanda Fernandes, Aristóteles Rosmaninho, Manuela Selores, Arlindo Guimas   +4 more
core   +1 more source

Xanthoma Disseminatum with Tumor-Like Lesion on Face

Case Reports in Dermatological Medicine, 2014
Xanthoma disseminatum (XD) is a rare benign mucocutaneous xanthomatosis that is classified as a benign non-Langerhans cell histiocytosis. We report a 62-year-old man who presented with widespread yellow-brown papulonodular and tumoral lesions on face ...
Habib Ansarin, Hoda Berenji Ardestani, Seyed Mehdi Tabaie, Nasrin Shayanfar   +3 more
doaj   +1 more source

Cerebrotendinous xanthomatosis: pathopahysiological study on bone metabolism

, 1993
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
FEDERICO, A., DOTTI, M. T., LORE, F., NUTI, R.   +3 more
core   +1 more source

Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

Orphanet Journal of Rare Diseases, 2019
Background Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX patients from 16 families have
Qing-Qing Tao, Yun Zhang, Hui-Xia Lin, Hai-Lin Dong, Wang Ni, Zhi-Ying Wu   +5 more
doaj   +1 more source

Short Reports - Cerebrotendinous xanthomatosis with oromandibular dyskinesia

, 2003
We present an unusual case of cerebrotendinous xanthomatosis in a female elderly patient with recurrent TM joint dislocation and oromandibular ...
S. Bordia, A. A. Saifee
core   +1 more source