Works about LIPIDOSES

Results: 388

SREBF1 mediates immunoparalysis of dendritic cells in sepsis by regulating lipid metabolism and endoplasmic reticulum stress.

Published in:

Cell Communication & Signaling, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12964-025-02295-9

By:

Zhang, Yaolu;
Wu, Fangfang;
Li, Yan;
Liu, Jiaxin;
Zhu, Liuyan;
Zhang, Min;
Lu, Zhongqiu

Publication type:

Article

Broken Balance: Emerging Cross-Talk Between Proteostasis and Lipostasis in Neurodegenerative Diseases.

Published in:

Cells (2073-4409), 2025, v. 14, n. 11, p. 845, doi. 10.3390/cells14110845

By:

Tittelmeier, Jessica;
Nussbaum-Krammer, Carmen

Publication type:

Article

Reporting preclinical gene therapy studies in the field of Niemann-Pick type C disease according to the ARRIVE guidelines.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03479-1

By:

Rasmussen, Charlotte Laurfelt Munch;
Burkhart, Annette;
Moos, Torben;
Thomsen, Louiza Bohn

Publication type:

Article

Bilateral carpal tunnel syndrome and multiple trigger fingers in a child with mucolipidosis Type III disease.

Published in:

2011

By:

Afshar, Ahmadreza

Publication type:

Case Study

Resveratrol promotes lysosomal function via ER calcium-dependent TFEB activation to ameliorate lipid accumulation.

Published in:

Biochemical Journal, 2021, v. 478, n. 5, p. 1159, doi. 10.1042/BCJ20200676

By:

Rong Shao;
Jiahui Shi;
Kaili Du;
Na Wang;
Weijie Cai;
Siyu Liu;
Zongxian Ding;
Yihan Wang;
Dan Li

Publication type:

Article

LICRE: unsupervised feature correlation reduction for lipidomics.

Published in:

2015

By:

Wong, Gerard;
Chan, Jeffrey;
Kingwell, Bronwyn A.;
Leckie, Christopher;
Meikle, Peter J.

Publication type:

Correction Notice

Two Cases of Niemann-Pick Disease Type C Presenting with Neonatal Cholestasis: Case Reports.

Published in:

2023

By:

Bhanu, Yaseena;
Kasula, Linga Reddy;
Kotha, Rakesh;
Madireddy, Alimelu

Publication type:

Case Study

Inherited cholesterol lipidosis: cerebrotendinous xanthomatosis (van Bogaert Scherer Epstein disease). A clinicopathological study.

Published in:

Clinical Neuropathology, 2005, v. 24, n. 6, p. 276

By:

Isenhardt, K.;
Schmitt, R.;
Nagel, A.;
Drach, L.;
Schlote, W.

Publication type:

Article

Lipidomic analysis of bloodstream and procyclic form Trypanosoma brucei.

Published in:

Parasitology, 2010, v. 137, n. 9, p. 1357, doi. 10.1017/S0031182010000715

By:

Richmond, Gregory S.;
Gibellini, Federica;
Young, Simon A.;
Major, Louise;
Denton, Helen;
Lilley, Alison;
Smith, Terry K.

Publication type:

Article

Defining the Baseline and Oxidant Perturbed Lipidomic Profiles of Daphnia magna.

Published in:

Metabolites (2218-1989), 2017, v. 7, n. 1, p. 11, doi. 10.3390/metabo7010011

By:

Taylor, Nadine S.;
White, Thomas A.;
Viant, Mark R.

Publication type:

Article

Research progress of electrophysiology for the diagnosis of metabolic myopathy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 6, p. 468, doi. 10.3969/j.issn.1672-6731.2014.06.002

By:

ZHAO Lei;
CUI Li-ying

Publication type:

Article

History of study on metabolic myopathy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 5, p. 368, doi. 10.3969/j.issn.1672.6731.2014.05.002

By:

YIN Jian;
HOU Shi-fang;
WANG Cui-di;
GUO Hong;
XU Xian-hao

Publication type:

Article

Imaging diagnosis of hepatic lipidosis in a cat.

Published in:

Korean Journal of Veterinary Research, 2018, v. 58, n. 2, p. 99, doi. 10.14405/kjvr.2018.58.2.99

By:

Seong-Hun Heo;
Young-Min Yoon;
Tae-Sung Hwang;
Dong-In Jung;
Hee-Chun Lee

Publication type:

Article

Diagnostic laparoscopy in a leopard cat (Prionailurus bengalensis) with intercostal abdominal hernia and hepatic lipidosis.

Published in:

Korean Journal of Veterinary Research, 2017, v. 57, n. 2, p. 127, doi. 10.14405/kjvr.2017.57.2.127

By:

Seong-Hoon Seok;
Se-Jin Park;
Seung-Yong Lee;
Hee-Chun Lee;
Seong-Chan Yeon

Publication type:

Article

Ocular lesions in Watanabe heritable hyperlipidemic rabbits.

Published in:

Veterinary Ophthalmology, 2006, v. 9, n. 3, p. 145, doi. 10.1111/j.1463-5224.2006.00453.x

By:

Kouchi, Mami;
Ueda, Yoshinaka;
Horie, Hiroshi;
Tanaka, Kohji

Publication type:

Article

GENEALOGICAL STUDY OF LIPOID PROTEINOSIS IN SOUTH AFRICA.

Published in:

British Journal of Dermatology, 1970, v. 83, n. 3, p. 338, doi. 10.1111/j.1365-2133.1970.tb15712.x

By:

Heyl, T.

Publication type:

Article

LIPOIDOSES.

Published in:

British Journal of Dermatology, 1955, v. 67, n. 12, p. 457

By:

F. F. H.

Publication type:

Article

Hepatic lipoidosis and fatty infiltration of organs in a captive African stonefish, <em>Synanceja verrucosa</em> Bloch & Schneider.

Published in:

Journal of Fish Diseases, 1994, v. 17, n. 2, p. 171, doi. 10.1111/j.1365-2761.1994.tb00210.x

By:

Penrith, M.-L.;
Bastianello, S. S.;
Penrith, M. J.

Publication type:

Article

Symmetric Lipomatosis Arising in the Tongue Presenting as Macroglossia and Articulatory Disorder.

Published in:

Case Reports in Otolaryngology, 2016, p. 1, doi. 10.1155/2016/2061649

By:

Kudoh, Masanori;
Omura, Ken;
Satsukawa, Arata;
Matsumoto, Koshi;
Taguchi, Takahide;
Harada, Hiroyuki;
Ishii, Yoshimasa

Publication type:

Article

Tissue-engineered dermal skin grafting in the treatment of ulcerated necrobiosis lipoidica.

Published in:

Clinical & Experimental Dermatology, 2001, v. 26, n. 2, p. 176, doi. 10.1046/j.1365-2230.2001.00789.x

By:

Owen, C.M.;
Murphy, H.;
Yates, V.M.

Publication type:

Article

Protean manifestations of lipoid proteinosis in a 16-year-old boy.

Published in:

Clinical & Experimental Dermatology, 2000, v. 25, n. 1, p. 30, doi. 10.1046/j.1365-2230.2000.00566.x

By:

Nagasaka;
Tanaka;
Ito;
Tanaka;
Shimizu;
Nagasaka

Publication type:

Article

Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium.

Published in:

2011

By:

Takeda, Atsuhito;
Sudo, Akira;
Yamada, Masafumi;
Yamazawa, Hirokuni;
Izumi, Gaku;
Nishino, Ichizo;
Ariga, Tadashi

Publication type:

journal article

Eponym: Barth syndrome.

Published in:

2011

By:

Takeda, Atsuhito;
Sudo, Akira;
Yamada, Masafumi;
Yamazawa, Hirokuni;
Izumi, Gaku;
Nishino, Ichizo;
Ariga, Tadashi

Publication type:

journal article

Cerebrotendinous xanthomatosis tremor successfully controlled post-ventral intermediate nucleus-deep brain stimulation: a case report.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1243379

By:

Rich, Alyson M.;
Karakoleva, Ema V.;
McInerney, James;
Farace, Elana;
De Jesus, Sol

Publication type:

Article

Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia.

Published in:

Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1131888

By:

Min Young Chun;
Nam Jin Heo;
Sang Won Seo;
Hyemin Jang;
Yeon-Lim Suh;
Ja-Hyun Jang;
Young-Eun Kim;
Eun-Joo Kim;
So Young Moon;
Na-Yeon Jung;
Sun Min Lee;
Hee Jin Kim

Publication type:

Article

Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome.

Published in:

Genes, 2021, v. 12, n. 8, p. 1164, doi. 10.3390/genes12081164

By:

Kopp, Julia;
Has, Cristina;
Hotz, Alrun;
Grünert, Sarah C.;
Fischer, Judith

Publication type:

Article

Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.

Published in:

Nutrients, 2024, v. 16, n. 24, p. 4309, doi. 10.3390/nu16244309

By:

de las Heras, Javier;
Almohalla, Carolina;
Blasco-Alonso, Javier;
Bourbon, Mafalda;
Couce, Maria-Luz;
de Castro López, María José;
García Jiménez, Mª Concepción;
Gil Ortega, David;
González-Diéguez, Luisa;
Meavilla, Silvia;
Moreno-Álvarez, Ana;
Pastor-Rosado, José;
Sánchez-Pintos, Paula;
Serrano-Gonzalo, Irene;
López, Eduardo;
Valdivielso, Pedro;
Yahyaoui, Raquel;
Quintero, Jesús

Publication type:

Article

Peanut Shell Extract Improves Markers of Glucose Homeostasis in Diabetic Mice by Modulating Gut Dysbiosis and Suppressing Inflammatory Immune Response.

Published in:

Nutrients, 2024, v. 16, n. 23, p. 4158, doi. 10.3390/nu16234158

By:

Bender, Matthew;
Santos, Julianna M.;
Dufour, Jannette M.;
Deshmukh, Hemalata;
Trasti, Scott;
Elmassry, Moamen M.;
Shen, Chwan-Li

Publication type:

Article

Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review.

Published in:

European Neurology, 2020, v. 83, n. 3, p. 317, doi. 10.1159/000508346

By:

Samukawa, Makoto;
Nakamura, Naoko;
Hirano, Makito;
Morikawa, Miyuki;
Sakata, Hanami;
Nishino, Ichizo;
Izumi, Rumiko;
Suzuki, Naoki;
Kuroda, Hiroshi;
Shiga, Kensuke;
Saigoh, Kazumasa;
Aoki, Masashi;
Kusunoki, Susumu

Publication type:

Article

Identification of two Iranian siblings with cerebrotendinous xanthomatosis: a case report.

Published in:

2023

By:

Beyzaei, Zahra;
Moravej, Hossein;
Imanieh, Mohammad Hadi;
Inaloo, Sorour;
Geramizadeh, Bita

Publication type:

Case Study

Chanarin–Dorfman syndrome: clinical/genetic features and natural history in six Pakistani patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00189-2

By:

Waheed, Nadia;
Ijaz, Sadaqat;
Fayyaz, Zafar

Publication type:

Article

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.

Published in:

European Journal of Neurology, 2011, v. 18, n. 10, p. 1203, doi. 10.1111/j.1468-1331.2011.03439.x

By:

Pilo-de-la-Fuente, B.;
Jimenez-Escrig, A.;
Lorenzo, J. R.;
Pardo, J.;
Arias, M.;
Ares-Luque, A.;
Duarte, J.;
Muñiz-Pérez, S.;
Sobrido, M. J.

Publication type:

Article

Long-term effect of bone marrow transplantation in adult-onset adrenoleukodystrophy.

Published in:

European Journal of Neurology, 2005, v. 12, n. 10, p. 807, doi. 10.1111/j.1468-1331.2005.01055.x

By:

Hitomi, T.;
Mezaki, T.;
Tomimoto, H.;
Ikeda, A.;
Shimohama, S.;
Okazaki, T.;
Uchiyama, T.;
Shibasaki, H.

Publication type:

Article

Neutral lipid storage disease with myopathy in China: a large multicentric cohort study.

Published in:

2019

By:

Zhang, Wei;
Wen, Bing;
Lu, Jun;
Zhao, Yawen;
Hong, Daojun;
Zhao, Zhe;
Zhang, Cheng;
Luo, Yuebei;
Qi, Xueliang;
Zhang, Yingshuang;
Song, Xueqin;
Zhao, Yuying;
Zhao, Chongbo;
Hu, Jing;
Yang, Huan;
Wang, Zhaoxia;
Yan, Chuanzhu;
Yuan, Yun

Publication type:

journal article

Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review.

Published in:

2019

By:

Pineda, Mercedes;
Juríčková, Katarína;
Karimzadeh, Parvaneh;
Kolniková, Miriam;
Malinová, Věra;
Torres, Juan;
Kolb, Stefan A.

Publication type:

journal article

Timing and determination of potential fecundity in Atlantic cod (Gadus morhua).

Published in:

Canadian Journal of Fisheries & Aquatic Sciences, 2006, v. 63, n. 2, p. 310, doi. 10.1139/F05-218

By:

Skjæraasen, Jon Egil;
Nilsen, Trygve;
Kjesbu, Olav S.

Publication type:

Article

Derivatization of common antidepressant drugs increases inhibition of acid sphingomyelinase and reduces induction of phospholipidosis.

Published in:

Journal of Neural Transmission, 2018, v. 125, n. 12, p. 1837, doi. 10.1007/s00702-018-1923-z

By:

Rhein, Cosima;
Löber, Stefan;
Gmeiner, Peter;
Gulbins, Erich;
Tripal, Philipp;
Kornhuber, Johannes

Publication type:

Article

Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase.

Published in:

Nature Medicine, 2005, v. 11, n. 10, p. 1109, doi. 10.1038/nm1305

By:

Tiede, Stephan;
Storch, Stephan;
Lübke, Torben;
Henrissat, Bernard;
Bargal, Ruth;
Raas-Rothschild, Annick;
Braulke, Thomas

Publication type:

Article

LIPIDOSES--DISEASES OF THE INTRACELLULAR LIPID METABOLISM. THIRD EDITION, REVISED AND ENLARGED.

Published in:: 1960
Publication type:: Book Review

Clinical, electrophysiological, and genetic characteristics of cerebrotendinous xanthomatosis in South Korea.

Published in:

2022

By:

Kim, Sunyoung;
Park, Jin-Sung;
Lee, Jae-Hyeok;
Shin, Ha-Young;
Yang, Hui-Jun;
Shin, Jin-Hong

Publication type:

Case Study

Assessment and rehabilitation of cognitive deficit in a Niemann-Pick type C disease patient.

Published in:

2021

By:

Maresca, Giuseppa;
Nocito, Vanessa;
De Salvo, Simona;
Formica, Caterina;
Leonardi, Simona;
Bramanti, Placido;
de cola, Maria crisitna;
Corallo, Francesco

Publication type:

journal article

Renal Lipidosis in Patients Enrolled in a Methadone Substitution Program.

Published in:

Archives of Pathology & Laboratory Medicine, 2014, v. 138, n. 5, p. 689, doi. 10.5858/arpa.2013-0075-CR

By:

Porubsky, Stefan;
Kuppe, Christoph;
Maier, Tanja;
Birk, Horst-Walter;
Wörnle, Markus;
Moeller, Marcus J.;
Floege, Jürgen;
Gröne, Hermann-Josef

Publication type:

Article

In vitro validation of drug-induced phospholipidosis.

Published in:

Journal of Toxicological Sciences, 2012, v. 37, n. 2, p. 261, doi. 10.2131/jts.37.261

By:

Sora Park;
You-Jin Choi;
Byung-Hoon Lee

Publication type:

Article

Exploring triheptanoin as treatment for neutral lipid storage disease with myopathy.

Published in:

European Journal of Translational Myology, 2023, v. 33, n. 2, p. 41, doi. 10.4081/ejtm.2023.11427

By:

Missaglia, Sara;
Tavian, Daniela;
Noguera, Nelida Inés;
Angelini, Corrado;
Cortese, Francesca;
Filosto, Massimiliano;
Garibaldi, Matteo;
Smigliani, Ariela;
Zaza, Alessandra;
Pennisi, Elena Maria

Publication type:

Article

Clinical and genetic characterization of Neutral lipid storage disease with myopathy (NLSDM).

Published in:

2023

By:

Filosto, Massimiliano;
Piccinelli, Stefano Cotti;
Caria, Filomena;
Risi, Barbara;
Labella, Beatrice;
Poli, Loris;
Padovani, Alessandro

Publication type:

Case Study

Neutral lipid storage disease with myopathy: A 10-year follow-up case report.

Published in:

European Journal of Translational Myology, 2022, v. 32, n. 2, p. 1, doi. 10.4081/ejtm.2022.10645

By:

Missaglia, Sara;
Tavian, Daniela;
Angelini, Corrado

Publication type:

Article

Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome.

Published in:

European Journal of Translational Myology, 2021, v. 31, n. 2, p. 1, doi. 10.4081/ejtm.2021.9796

By:

Tavian, Daniela;
Durdu, Murat;
Angelini, Corrado;
Torre, Enza;
Missaglia, Sara

Publication type:

Article

Jordans' Anomaly as a Red Flag for Neutral Lipid Storage Diseases.

Published in:

2022

By:

Safavi, Moeinadin;
Vasei, Mohammad;
Motamed, Farzaneh

Publication type:

Case Study

Gallbladder Papilloma in a Child Unmasking Metachromatic Leukodystrophy: A Case Report With Review of Literature.

Published in:

Fetal & Pediatric Pathology, 2019, v. 38, n. 4, p. 345, doi. 10.1080/15513815.2019.1588442

By:

Abdel Aziz, Marwa;
Kotb, Mostafa;
Abdelmeguid, Yasmine;
Shehata, Sameh;
Abdel-Hadi, Mona

Publication type:

Article

Deficiency of a Niemann-Pick, Type C1-related Protein in Toxoplasma Is Associated with Multiple Lipidoses and Increased Pathogenicity.

Published in:

PLoS Pathogens, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.ppat.1002410

By:

Lige, Bao;
Romano, Julia D.;
Bandaru, Veera Venkata Ratnam;
Ehrenman, Karen;
Levitskaya, Jelena;
Sampels, Vera;
Haughey, Norman J.;
Coppens, Isabelle

Publication type:

Article