Results 101 to 110 of about 48,564 (222)

Precision medicine in cats:novel niemann-pick type C1 diagnosed by whole-genome sequencing [PDF]

, 2017
State-of-the-art health care includes genome sequencing of the patient to identify genetic variants that contribute to either the cause of their malady or variants that can be targeted to improve treatment.
1, 1 B. Gandolfi, 1 C. R. Reinero, 1 D. P. O'Brien, 1 J. L. Spooner, 2 L. A. Lyons, Adam R. Boyko, and 99 Lives Consortium: Danielle Aberdein, Christopher B. Kaelin, Christopher R. Helps, D. A. Mauler, Dorian J. Garrick, Elizabeth A. Wilcox, Emilie Leclerc, Gregory S. Barsh, Hannes Lohi, Holly C. Beale, Jeffrey A. Brockman, John S. Munday, Jonathan E. Fogle, Joshua A. Stern, Julia H. Wildschutte, Karen A. Terio, Maria Kaukonen, Maria Longeri, Marjo K. Hytönen, Marta G. Castelhano, Max F. Rothschild, Michael J. Montague, N. Matthew Ellinwood, Niels C. Pedersen, Patricia P. Chan, Paulo C. Alves, Richard Malik, Rory J. Todhunter, Tosso Leeb, Wesley C. Warren, William F. Swanson, William J. Murphy, Yu Ueda   +39 more
core   +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

Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease

Journal of Lipid Research, 1967
This paper describes the purification and some of the properties of an enzyme from human spleen that catalyzes the hydrolysis of sphingomyelin with the formation of ceramide and phosphoryl choline.
Peter B. Schneider, Eugene P. Kennedy
doaj   +1 more source

Unravelling new pathways of sterol metabolism [PDF]

, 2017
Purpose of reviewTo update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways.Recent findingsPatients suffering from inborn errors of sterol biosynthesis, transport and ...
Björkhem, Boenzi, Boland, Griffiths, Griffiths, Griffiths, Griffiths, Guengerich, Jiang, Jones, Kannenberg, Mazzacuva, Noguer, Nury, Pajares, Pataj, Polo, Reunert, Romanello, Sever, Silvente-Poirot, Vanier, Vaz, Xu   +23 more
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 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

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up

Orphanet Journal of Rare Diseases, 2019
BackgroundAcid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is divided into infantile neurovisceral ASMD (Niemann-Pick type A), chronic neurovisceral ASMD (intermediate form, Niemann-Pick ...
Patryk Lipiński, L. Kuchař, E. Zakharova, G. Baydakova, A. Ługowska, A. Tylki-Szymańska   +5 more
semanticscholar   +1 more source

Upregulation of sphingomyelin and ABCA8 in response to TDP‐43 pathology in amyotrophic lateral sclerosis brain

Brain Pathology, Volume 36, Issue 3, May 2026.
Increases in sphingomyelin in response to TDP‐43 pathology in the disease‐affected motor cortex of amyotrophic lateral sclerosis (ALS) brain. Abstract Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease characterized by the degeneration of motor neurons and the presence of TAR DNA‐binding protein 43 (TDP‐43 ...
Finula I. Isik, Russell Pickford, Nicolas Dzamko, Kerry‐Anne Rye, Woojin Scott Kim   +4 more
wiley   +1 more source

Risk Prediction for Niemann-Pick Disease

Pediatric Neurology Briefs, 2012
A retrospective chart review of 216 patients with Niemann-Pick disease type C (NP-C) was conducted in 5 centers in Europe including University of Amsterdam and 2 in Australia.
J Gordon Millichap
doaj   +1 more source

Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment [PDF]

, 2017
International audienceBackground: Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by a wide clinical spectrum and non-specific conventional magnetic resonance imaging (MRI) signs.
Damien Galanaud, Fanny Mochel, Frédéric Sedel, Isaac Adanyeguh, Marion Masingue, Yann Nadjar   +5 more
core   +2 more sources