Results 61 to 70 of about 5,268,641 (220)

Ciliary Membrane Lipid Homeostasis in Health and Disease

Advanced Science, Volume 13, Issue 58, 19 October 2026.
This review systematically delineates the distinct lipid landscapes of ciliary membranes, including the spatial organization of phosphoinositides, cholesterol, and sphingolipids. It elucidates how these lipids orchestrate ciliogenesis, signal transduction, and membrane dynamics in cilia beating, and highlights how their dysregulation drives ...
Zhenzhou Huang, Yuan‐yuan Liu, Hanqi Sun, Peiwei Liu   +3 more
wiley   +1 more source

Miglustat in Niemann-Pick disease type c (NPC)

, 2008
Miglustat in Niemann-Pick disease type c ...
Ed Wraith (15917000), Darleen Vecchio (15917003), Helena Prady (15917006), Marc Patterson (5636096), Larry Abel (13056207)   +4 more
core   +1 more source

Progressive Cognitive Decline and Pyramidal Signs in a Patient With a Novel Homozygous c.395A>T; p.Lys132Met Mutation in CHCHD2

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Biallelic CHCHD2 variants are rare. We report a consanguineous man with a novel homozygous CHCHD2 c.395A>T (p.Lys132Met) variant who developed progressive cognitive decline, apraxia, oculomotor impairment, and pyramidal signs without parkinsonism.
Mehri Salari, Arash Soltani, Masoud Etemadifar, Kamran Rezaei   +3 more
wiley   +1 more source

Niemann-Pick type C disease

Journal of Lipid Research, 2002
We analyzed Niemann-Pick type C disease 1 (NP44406) gene in 12 patients with Niemann-Pick type C disease by sequencing both cDNA obtained from fibroblasts and genomic DNA. All the patients were compound heterozygotes.
Patrizia Tarugi, Giorgia Ballarini, Bruno Bembi, Carla Battisti, Silvia Palmeri, Francesca Panzani, Enza Di Leo, Cristina Martini, Antonio Federico, Sebastiano Calandra   +9 more
doaj   +1 more source

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

Prenatal Diagnosis, Volume 46, Issue 11, Page 1703-1710, October 2026.
ABSTRACT Objective Expert prenatal focused gene‐disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing. Methods An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe ...
Stephanie N. Galloway, Jessica L. Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Prenatal GCEP Panel members, Ronald J. Wapner, Wendy Chung, Ignatia B. Van den Veyver, Shagun Aggarwal, Caitlin Baptiste, Brenna Boyd, Amanda Buchanan, Alicia Byrne, Imen Chakchouk, David Chitayat, Lyn Chitty, Pinal Dalwadi, Avinash Dharmadhikari, Lilian Downie, Stephanie Dukhovny, Mythily Ganapathi, Kelly Gilmore, Elena Greenfeld, Lylach Haizler‐Cohen, Vaidehi Jobanputra, Gabrielle Litteken, Hannah Perrin, Julie Ratliff, Rebecca Reimers, Erin Riggs, Teresa Sparks, Samantha Stover, Amanda Thomas‐Wilson, Leandra Tolusso, Neeta Vora, Tsegaselassie Workalemahu, Roni Zemet‐Lazar   +37 more
wiley   +1 more source

Defective iron homeostasis and haematological abnormalities in Niemann-Pick disease type C. Chen et al

, 2022
Investigation of iron metabolism in the pathogenesis of Niemann-Pick disease type C in an authentic mouse model and ...
Nick Platt
core   +1 more source

Clinical observations of late infantile and juvenile forms of Niemann – Pick disease type C

Бюллетень сибирской медицины, 2017
A clinical description and analysis of cases of Niemann – Pick disease type C in two children are presented. The difficulty of the diagnosis is due to the polymorphism of clinical manifestations, variability in the age of manifestation, rarity of the ...
Irina F. Fedoseeva, Tatyana V. Poponnikova, Galina Yu. Galieva, Olga V. Ilyasova   +3 more
doaj   +1 more source

Applying a Pareto‐Based Efficiency Frontier to Inform Value‐Based Pricing for Gaucher Disease Therapies in Brazil

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 10, October 2026.
ABSTRACT Purpose Gaucher disease (GD) requires lifelong high‐cost treatment within the Brazilian Unified Health System (SUS). In Brazil, treatment eligibility and monitoring are defined by Clinical Protocol and Therapeutic Guidelines (PCDT), while pharmaceutical prices are regulated by the Drug Market Regulation Chamber (CMED).
Marcus Carvalho Borin, Ludmila Peres Gargano, Francisco de Assis Acurcio, Juliana Álvares‐Teodoro, Augusto Afonso Guerra Junior   +4 more
wiley   +1 more source

Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease

, 2010
Oxysterols are biomarkers for diagnosis and drug treatment in Niemann-Pick C1 disease.
Dana Olzeski, Michael H. Lanier, S. Joshua Langmade, Jean E. Schaffer, David E. Scherrer, Steven P. Marso, Sarah E. Gale, Dennis J. Dietzen, Rohini Sidhu, Charles Vite, Daniel S. Ory, Christopher A. Wassif, Forbes D. Porter, Vasumathi Molugu, Rao Fu, Nicole M. Yanjanin, John House   +16 more
core   +1 more source

Prenatal Diagnosis and Genetic Counseling for Niemann-Pick C Disease [PDF]

, 2015
How to Cite this Article: Javadzadeh M. Prenatal Diagnosis and Genetic Counseling for Niemann-Pick C Disease. Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 22. Pls see pdf.
JAVADZADEH, Mohsen
core   +1 more source