Results 81 to 90 of about 25,991 (220)

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

Reducing GBA2 activity ameliorates neuropathology in niemann-pick type C mice [PDF]

, 2015
The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly reduced GBA activity is associated with severe manifestations of Gaucher disease including neurological involvement.
Aerts, J.M.F.G. (Johannes), Aten, J. (Jan), Boot, R.G. (Rolf), Claessen, N. (Nike), Herrera Moro, D. (Daniela), Lin, Z. (Zhanmin), Marques, A.R.A. (André), Mirzaian, M. (Mina), Ottenhoff, R. (Roelof), Overkleeft, H.S. (Herman), Roomen, C.P.A.A. (Cindy) van, Vinueza Veloz, M.F. (Maria), Yildiz, Y. (Yildiz), Zeeuw, C.I. (Chris) de, Zhou, K. (Kuikui)   +14 more
core   +7 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

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease [PDF]

, 2015
Background Lysosomal storage disorders (LSDs), are a heterogeneous group of rare disorders caused by defects in genes encoding for proteins involved in the lysosomal degradation of macromolecules. They occur at a frequency of about 1 in 5,000 live births,
Cortina-Borja, Mario, Eichler, Sabrina, Eisa, Nada Al, Giese, Anne-Katrin, Grittner, Ulrike, Kramp, Guido, Lukas, Jan, Mascher, Hermann, Platt, Frances M., Porter, Forbes D., Rolfs, Arndt, Vruchte, Danielle te   +11 more
core   +2 more sources

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

Consensus clinical management guidelines for Niemann-Pick disease type C

Orphanet Journal of Rare Diseases, 2018
Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the ...
Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson, on behalf of the International Niemann-Pick Disease Registry (INPDR)   +25 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

Saccadic Eye Movement Characteristics in Adult Niemann-Pick Type C Disease: Relationships with Disease Severity and Brain Structural Measures

, 2015
Niemann-Pick Type C disease (NPC) is a rare genetic disorder of lipid metabolism. A parameter related to horizontal saccadic peak velocity was one of the primary outcome measures in the clinical trial assessing miglustat as a treatment for NPC ...
Christopher L. Adamson, Dennis Velakoulis, Elizabeth A. Bowman, Jeffrey Chee, Larry A. Abel, Leong Looi, Mark Walterfang, Matthew D. Macfarlane, Michael C. Fahey, Patricia Desmond   +9 more
core   +1 more source