Results 71 to 80 of about 29,877 (187)

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study [PDF]

, 2017
Additional file 1.
Carmen Dominguez, Isabel De Castro-Orós, Jorge Javier Cebolla, María Jesús Pueyo, Miguel Mallén, Miguel Pocoví, null null, Pilar Irún, Pilar Mozas, Victor Rodriguez-Sureda   +9 more
core   +3 more sources

Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Niemann‐Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder that affects approximately 1 in 100 000 live births. It is primarily caused by mutations in the NPC1 gene, which disrupts intracellular cholesterol transport and leads to lipid accumulation in late endosomes and lysosomes.
Sanaa Abdelmalek Mahmoud, AhmedElmontaser Mergani, Maren von Köckritz‐Blickwede, Hassan Y. Naim   +3 more
wiley   +1 more source

Algorithms in Allergy: Molecular Allergology in the Context of Animal Allergy

Allergy, EarlyView.
Christiane Hilger, Bulent E. Sekerel, Marianne van Hage, Wolfgang Hemmer, Jon R. Konradsen   +4 more
wiley   +1 more source

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Acid sphingomyelinase deficiency (ASMD) is a rare debilitating lysosomal storage disease resulting in multisystemic disease manifestations, significant disease burden, and early mortality for some individuals. Enzyme replacement therapy (ERT) with olipudase alfa (Xenpozyme) is the first disease‐specific treatment indicated for noncentral ...
Melissa P. Wasserstein, Carla E. Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Robin Lachmann, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Beth L. Thurberg, Jesus Villarrubia, Nicole M. Armstrong, Shashi Bhushan, Yong Kim, Monica Kumar   +20 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

Short‐Term Oral Spermidine Supplementation Modifies Aspects of Neurodegenerative Disease in Flies and Mice With MPS III

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Mucopolysaccharidosis type III (MPS III) is a group of autosomal recessive neurodegenerative lysosomal storage disorders that causes progressive cognitive and physical impairment, predominantly in child/early adulthood. The median age of death is 17 years as there is no safe, effective treatment approved.
Helen Beard, Sonia Dayan, Karissa Barthelson, Laura Hewson, Louise V. O'Keefe, Kim M. Hemsley   +5 more
wiley   +1 more source

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease [PDF]

, 2016
This article describes a rapid UPLC-MS/MS method to quantitate novel bile acids in biological fluids and the evaluation of their diagnostic potential in Niemann-Pick C (NPC). Two new compounds, NPCBA1 (3β-hydroxy,7β-N-acetylglucosaminyl-5-cholenoic acid)
Camuzeaux, S, Clayton, PT, Gissen, P, Iida, T, Maekawa, M, Mano, N, Mazzacuva, F, Mills, K, Mills, P, Nicoli, E-R, Platt, F, Porter, FD, te Vruchte, D, Wassif, C   +13 more
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

Liver Fibrosis: Molecular Pathogenesis and Therapeutic Interventions

MedComm, Volume 7, Issue 5, May 2026.
We systematically summarized the etiologies, diagnostic approaches, and pathogenic mechanisms of liver fibrosis. Also, the therapeutic interventions for liver fibrosis were systematically classified into two main categories: etiological treatment and mechanism‐based antifibrotic therapies.
Jiaorong Qu, Wenqing Qin, Minghang Dong, Zhi Ma, Si Li, Runping Liu, Ranyun Chen, Changmeng Li, Xiaojiaoyang Li   +8 more
wiley   +1 more source