Results 41 to 50 of about 15,664 (135)

Features of liver damage in Niemann — Pick disease type A, A/B and B (deficiency of acidic sphingomyelinase)

Лечащий Врач
Background. Acid sphingomyelinase deficiency (Niemann – Pick disease) leads to the intracellular accumulation of sphingomyelin within the mononuclear phagocyte system, including liver, spleen, lungs and bone marrow.
Goar B. Movsisyan, Tatyana A. Bokova
doaj   +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

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

A mouse model for Niemann-Pick disease: phospholipid class and fatty acid composition of various tissues.

Journal of Lipid Research, 1984
Recently, a strain of mice bearing an autosomal recessive gene, spm, has been described. On the basis of clinical and pathological findings these mice have been suggested as a useful model of human Niemann-Pick disease. Phospholipids and their fatty acid
S Nakashima, K Nagata, Y Banno, T Sakiyama, T Kitagawa, S Miyawaki, Y Nozawa   +6 more
doaj   +1 more source

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series

Molecular Genetics and Metabolism Reports
Niemann Pick Type C disease is a rare and progressive neurodegenerative lysosomal storage disorder caused by autosomal recessive mutations in the NPC1 and NPC2 genes.
Hedyeh Saneifard, Marjan Shakiba, Mohammadreza Alaei, Asieh Mosallanejad, Shirin Ghanefard, Mehrdad Yasaei, Kimia Karimi Toudeshki   +6 more
doaj   +1 more source

Mapping the Young‐Onset Dementia Research in the Asia‐Pacific Region: A Scoping Review

Asia-Pacific Psychiatry, Volume 18, Issue 3, September 2026.
ABSTRACT Young‐onset dementia (YOD), with symptom onset before 65, is an area of increasing public health importance. YOD research in Asia‐Pacific remains under‐represented in the global YOD research landscape. This scoping review aimed to comprehensively map the existing YOD literature from Asia‐Pacific and provide an overview of the research topics ...
Gia Tan, Gary Cheung, Samantha M. Loi, Etuini Ma'u, Campbell Le Heron, Monica Cations, Nick Garrett, Megan Eustace, So Young Moon, Eun‐Joo Kim, Kok Pin Ng, Adeline S. L. Ng, Huali Wang, Isabelle Burke, Kenny Ong, Brigid Ryan   +15 more
wiley   +1 more source

Medications That Regulate Pregnane X Receptor: A Systematic Review of Current Evidence

Pharmacology Research &Perspectives, Volume 14, Issue 4, August 2026.
PRISMA 2020 flow diagram of study selection for this systematic review of medications that regulate the pregnane X receptor (PXR), from 12 236 records screened to 101 included studies. ABSTRACT The pregnane X receptor (PXR) gene encodes a ligand‐activated protein involved with the metabolism and excretion of drugs, toxins, and other xenobiotics.
Petra Czarniak, Rachael Moorin, Jeff Hughes, Karl Gruber, David Youens   +4 more
wiley   +1 more source

The ubiquitin‐proteasome system and autophagy as guardians of the cellular proteome

FEBS Letters, Volume 600, Issue 13, Page 1829-1841, July 2026.
This Perspective covers the three principles governing the crosstalk between the ubiquitin‐proteasome system and autophagy in cellular proteostasis: (1) a shared ubiquitin code routing substrates via shuttle factors or autophagy receptors; (2) spatial compartmentalization into phase‐separated degradation hubs and organelle‐specific modules (exemplified
Ivan Dikic
wiley   +1 more source

Intestinal Source Control of Lipid Metabolism by Enzyme‐Probiotic Encapsulated, Spatiotemporal Crosslinked, and Small Intestine‐Adhesive Hydrogel Microspheres

Advanced Science, Volume 13, Issue 39, 13 July 2026.
A thiol‐modified alginate hydrogel microsphere‐encapsulated enzyme‐probiotic biohybrid (AKK‐COD) system has been developed to address the spatiotemporal delivery and colonization challenges of small intestine‐targeted probiotic for lipid metabolism regulation. The system exerts sequential functions of intragastric protection, small intestinal adhesion,
Xiaolin Wu, Weiwen Liang, Siqi He, Guangyuan Chen, Hui Zhou, Xinglong Wang, Yifei Li, Dingcai Wu, Bingna Zheng, Ruoxu Dou, Rongkang Huang   +10 more
wiley   +1 more source