Results 51 to 60 of about 5,268,641 (220)

Niemann-Pick disease type C

Orphanet Journal of Rare Diseases, 2010
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births.
Vanier Marie T
doaj   +1 more source

The Circular Processes Model of Cultural Taxation: The Lived Experiences of Māori Healthcare Employees

Kōtuitui: New Zealand Journal of Social Sciences Online, Volume 21, Issue 4, December 2026.
This study examines the cultural taxation experiences of Māori healthcare employees in Aotearoa. Cultural taxation, a form of implicit bias, refers to the burdens imposed on minority employees to engage in cultural responsibilities without receiving recognition or consideration in promotions (Padilla 1994).
Stefan Stracke‐Reeves, Jennifer Hoi Ki Wong, Tyron Love   +2 more
wiley   +1 more source

Vitamin E and Niemann–Pick Disease Type C [PDF]

, 2015
How to Cite this Article: Rezayi AR. Vitamin E and Niemann–Pick Disease Type C. Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 23.Pls see Pdf.
REZAYI, Alireza
core   +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

Efficacy and Safety of Oral Non‐Statin Lipid‐Lowering Therapies in Dyslipidaemia: A Systematic Review and Network Meta‐Analysis

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 6, November 2026.
A network meta‐analysis of 43 randomized trials showed that oral combination therapies, particularly obicetrapib plus ezetimibe and bempedoic acid plus ezetimibe, achieved the greatest LDL‐C reduction with reassuring safety profiles, supporting their use as effective oral alternatives for patients with dyslipidaemia. ABSTRACT Introduction Dyslipidaemia
Tamer Hodrob, Reem J. Saad, Aya Hamdy, Mariam Saleh Alheneedy, Ahmed Mohamed Shehata Abdelfattah Elsayed, Elsaghir Ghazy, Hazem Ayesh   +6 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

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

Nutrition management of Niemann Pick disease type C: A case report

Endocrine Regulations, 2021
Objectives. We aim to report the clinical repercussions of a nutritional approach in a patient diagnosed with Niemann Pick disease type C (NPC) using miglustat as pharmacological therapy.
Viana dos Santos Rejane, das Neves Ferreira Tamila, Oliveira de Almeida Daniela, Brito da Silva Fatal Lilian, Queiroz Araujo Edilene Maria   +4 more
doaj   +1 more source

Trafficking Deficiency of TMEM175 Variants in Parkinson's Disease Pathogenesis and the Prospects of Precision Medicine

Advanced Science, Volume 13, Issue 57, 14 October 2026.
This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo, Yu He, Shuyao Li, Haoyu Guan, Ruili Cui, Yu Shi, Zhongwen Jiang, Siyu Wang, Xuan Li, Jiyuan Li, Mei Hu, Yupeng Zhou, Beisha Tang, Yanyan Zhang, Zhaobing Gao, Yu Zhou, Zhenhua Liu, Ping Li   +17 more
wiley   +1 more source

Niemann –Pick C Disease: Is It A Misnomenclature? [PDF]

, 2015
How to Cite This Article: Ahmadabadi F. Niemann –Pick C Disease: Is It A Misnomenclature. Iran J Child Neurol.
AHMADABADI, Farzad
core   +1 more source