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Quantitative Sensory Testing in a Girl With Tangier Disease: A Case Report

Cureus
Tangier disease is a rare genetic disorder caused by a deficiency in the ABCA1 gene, resulting in impaired metabolism of high-density lipoprotein (HDL) cholesterol.
Edicson Ruíz-Ospina, F. Ortiz-Corredor, Sandra Castellar-Leones, Javier Rubio Delgado-Martinez   +3 more
semanticscholar   +3 more sources

A case of suspected Tangier disease after fecal occult blood examination

Progress of Digestive Endoscopy, 2018
Japanese adult siblings with Tangier disease and reported A 47-year-old woman underwent colonoscopy for fecal occult blood examination, which revealed a yellowish colonic mucosa with disappearing permeability of the capillary vessel and scat- tered tiny ...
Y. Iizuka, Keita Fukuda, Y. Sugiyama, Taro Shimizu, Minami Endoh, M. Ueda, F. Goto, T. Kawamura   +7 more
semanticscholar   +3 more sources

A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family.

Biochemical and Biophysical Research Communications - BBRC, 2019
M. Maranghi, Gessica Truglio, A. Gallo, Elvira Grieco, A. Verrienti, A. Montali, P. Gallo, F. Alesini, M. Arca, M. Lucarelli   +9 more
semanticscholar   +2 more sources

Hepatocyte ABCA1 deficiency is associated with reduced HDL sphingolipids

Frontiers in Physiology, 2023
ATP binding cassette transporter A1 (ABCA1) limits the formation of high density lipoproteins (HDL) as genetic loss of ABCA1 function causes virtual HDL deficiency in patients with Tangier disease.
Alaa Othman, Mingxia Liu, Heiko Bode, Elena Boudyguina, Arnold von Eckardstein, Arnold von Eckardstein, John S. Parks, John S. Parks, Thorsten Hornemann   +8 more
doaj   +1 more source

Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease. [PDF]

JIMD Rep, 2015
Brunham LR, Kang MH, Van Karnebeek C, Sadananda SN, Collins JA, Zhang LH, Sayson B, Miao F, Stockler S, Frohlich J, Cassiman D, Rabkin SW, Hayden MR.   +12 more
europepmc   +2 more sources

Tangier disease.

Journal of Neurology Neurosurgery & Psychiatry, 2020
Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are ...
R. Kocen
semanticscholar   +2 more sources

Transbilayer phospholipid movements in ABCA1-deficient cells. [PDF]

PLoS ONE, 2007
Tangier disease is an inherited disorder that results in a deficiency in circulating levels of HDL. Although the disease is known to be caused by mutations in the ABCA1 gene, the mechanism by which lesions in the ABCA1 ATPase effect this outcome is not ...
Patrick Williamson, Margaret S Halleck, Jonathan Malowitz, Susan Ng, Xiaoxuan Fan, Stephen Krahling, Alan T Remaley, Robert A Schlegel   +7 more
doaj   +1 more source

An uncommon cause of bifacial weakness and non-length-dependent demyelinating neuropathy

Annals of Indian Academy of Neurology, 2015
Tangier disease is a rare metabolic disorder that causes neuropathy in half of the affected individuals. We present the clinical, electrophysiological, and histopathological findings in a middle-aged gentleman of Tangier disease who was initially ...
Madhu Nagappa, Arun B Taly, Anita Mahadevan, Mailankody Pooja, Parayil Sankaran Bindu, Yasha T Chickabasaviah, Narayanappa Gayathri, Sanjib Sinha   +7 more
doaj   +1 more source

Human exposure to Anaplasma phagocytophilum in two cities of Northwestern Morocco [PDF]

, 2016
Anaplasma phagocytophilum is an emerging tick-borne zoonosis with extensive increased interest. Epidemiological data are available in several regions of the USA, Europe and Asia in contrast to other parts of the world such as North Africa.
Benajiba, Mohammed, Daminet, Sylvie, Duchateau, Luc, El Amri, Hamid, El Hamiani Khatat, Sarah, Hing, Mony, Kachani, Malika, Moustain, Ismail Alaoui, Sahibi, Hamid   +8 more
core   +3 more sources

The Autobiography of Muhammad Shukrī: Modern Su'lūk [PDF]

, 2010
n Arabic literature, the autobiographical works of Muḥammad Shukrī (1935-2003), al-Khubz al-Ḥāfī (For Bread Alone), Zaman al-Akhṭā (Time of Mistakes), and Wujūh (Faces), fit into a liminal, mythological space first populated by the pre-Islamic ṣulūk ...
Thompson, Levi
core   +2 more sources