Results 71 to 80 of about 48,564 (222)

An Australian standard of care for Niemann–Pick disease type C

Internal Medicine Journal, EarlyView.
Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Michel Tchan, Nicholas Smith, Heidi Peters, Ellie Van Velsen, Catherine Marraffa, Carolyn Ellaway, Katrina Cruz, Shekeeb S. Mohammad, Maina Kava, Joy Yaplito‐Lee, Shanti Balasubramaniam, Yusof Rahman, Brendon Boot, Ashley Bush, Felicity Munro, Leniza Hamoy, Ya Hui Hung, Philippa Johnston, Deanna Carpino, Molly Williams, Sharmila Kiss, Rebecca Quin, Ingrid Sutherland, Mark Walterfang   +23 more
wiley   +1 more source

First person – Jorge Rodriguez-Gil

Disease Models & Mechanisms, 2020
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms (DMM), helping early-career researchers promote themselves alongside their papers.
doaj   +1 more source

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.

Molecular Genetics and Metabolism, 2016
BACKGROUND Acid sphingomyelinase deficiency (ASMD), [Niemann-Pick Disease Types A and B (NPD A and B)], is an inherited metabolic disorder resulting from deficiency of the lysosomal enzyme acid sphingomyelinase.
D. Cassiman, S. Packman, B. Bembi, H. B. Turkia, Moeenaldeen D. Al-Sayed, M. Schiff, J. Imrie, P. Mabe, Tsutomu Takahashi, K. Mengel, R. Giugliani, G. Cox   +11 more
semanticscholar   +1 more source

Narcolepsy and rapid eye movement sleep

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini, Lucie Barateau, Fabio Pizza, Giuseppe Plazzi, Yves Dauvilliers   +4 more
wiley   +1 more source

Difficult diagnosis. Niemann - Pick disease, type C

Медицинский совет, 2014
Modern diagnostic capabilities and improved medical knowledge allow to detect more diseases that were previously considered extremely rare. Along with the achievements of the pharmaceutical industry, timely diagnosis and adequate therapy often save the ...
L. S. Namazova-baranova, A. K. Gevorkyan, N. D. Vashakmadze, L. S. Vysotskaya, A. M. Mamedyarov, T. V. Margieva   +5 more
doaj   +1 more source

Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P2 That Regulates Neuronal Excitability. [PDF]

, 2019
There is increasing evidence that the lysosome is involved in the pathogenesis of a variety of neurodegenerative disorders. Thus, mechanisms that link lysosome dysfunction to the disruption of neuronal homeostasis offer opportunities to understand the ...
Dickson, Eamonn J, Dixon, Rose E, Ory, Daniel S, Tiscione, Scott A, Vivas, Oscar   +4 more
core   +2 more sources

Adeno-associated viral vector serotype 9–based gene therapy for Niemann-Pick disease type A

Science Translational Medicine, 2019
Gene therapy for Niemann-Pick type A disease is safe in nonhuman primates and has therapeutic effects in a mouse model. Safe and effective gene delivery Niemann-Pick type A disease (NPD-A) is caused by loss-of-function mutations in the gene encoding for ...
L. Samaranch, A. Pérez-Cañamás, Beatriz Soto-Huelin, Vivek R. Sudhakar, Jerónimo Jurado-Arjona, P. Hadaczek, J. Ávila, J. Bringas, J. Casas, Haifeng Chen, Xingxuan He, E. Schuchman, Seng H. Cheng, J. Forsayeth, K. Bankiewicz, M. Ledesma   +15 more
semanticscholar   +1 more source

Therapeutic potential of okra (Abelmoschus esculentus) in dysglycaemia and metabolic dysfunction: A systematic review and meta‐analysis across the diabetes spectrum

Experimental Physiology, EarlyView.
Abstract The aim of this systematic review and meta‐analysis was to evaluate comprehensively the therapeutic potential of Abelmoschus esculentus (okra) supplementation across the diabetes spectrum of key metabolic risk factors. A search was conducted in PubMed, Scopus, Web of Science, EMBASE and the Cochrane Library, up to 23 July 2025, to identify ...
Ali Jafari, Helia Mardani, Mohammad Amin Karimi, MohammadHossein Sahami Gilan, Helia Hemmat, Fatemeh Shoja, Nooshin Enayati Soofi, Ghazaleh Eslamian   +7 more
wiley   +1 more source

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

Journal of Pediatric Research, 2018
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu   +4 more
doaj   +1 more source

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

Gut, 2016
Objective Patients with Niemann–Pick disease type C1 (NPC1), a lysosomal lipid storage disorder that causes neurodegeneration and liver damage, can present with IBD, but neither the significance nor the functional mechanism of this association is clear ...
T. Schwerd, S. Pandey, Huei-Ting Yang, Katrin Bagola, E. Jameson, Jonathan Jung, R. Lachmann, N. Shah, Smita Y. Patel, C. Booth, H. Runz, G. Düker, Ruth Bettels, M. Rohrbach, S. Kugathasan, H. Chapel, S. Keshav, A. Elkadri, N. Platt, A. Muise, S. Koletzko, R. Xavier, T. Marquardt, F. Powrie, J. E. Wraith, M. Gyrd-Hansen, F. Platt, H. Uhlig   +27 more
semanticscholar   +1 more source