Results 81 to 90 of about 3,855 (201)

Predictive Analysis for First Submission of Generic Drug Application for Orphan Drug Products Using Random Survival Forest

Clinical and Translational Science, Volume 18, Issue 10, October 2025.
ABSTRACT Rare diseases affect a small population of patients, resulting in low incentives for developing orphan drug products (ODPs). The United States Congress passed the Orphan Drug Act of 1983 to incentivize pharmaceutical manufacturers to develop drugs to treat rare diseases.
Robert Hopefl, Jing Wang, Abhinav Ram Mohan, Wei‐Jhe Sun, Myong‐Jin Kim, Meng Hu, Lanyan Fang   +6 more
wiley   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Differently increased volumes of multiple brain areas in Npc1 mutant mice following various drug treatments

Frontiers in Neuroanatomy
BackgroundNiemann-Pick disease type C1 (NPC1, MIM 257220) is a heritable lysosomal storage disease characterized by a progressive neurological degeneration that causes disability and premature death.
Veronica Antipova, Veronica Antipova, Diana Heimes, Diana Heimes, Katharina Seidel, Katharina Seidel, Jennifer Schulz, Oliver Schmitt, Oliver Schmitt, Carsten Holzmann, Carsten Holzmann, Arndt Rolfs, Hans-Jürgen Bidmon, Hans-Jürgen Bidmon, Estibaliz González de San Román Martín, Estibaliz González de San Román Martín, Pitter F. Huesgen, Pitter F. Huesgen, Katrin Amunts, Katrin Amunts, Jonas Keiler, Niels Hammer, Niels Hammer, Niels Hammer, Martin Witt, Martin Witt, Martin Witt, Andreas Wree, Andreas Wree   +28 more
doaj   +1 more source

Gaucher disease, state of the art and perspectives

Journal of Internal Medicine, Volume 298, Issue 3, Page 155-172, September 2025.
Abstract Knowledge about Gaucher disease (GD), considered a model for rare diseases, has considerably increased since its discovery. The pathophysiology of this lysosomal disorder is better known, and specific therapies that can control many aspects of the disease have been developed, particularly for the most common form, Type 1 GD.
Fabrice Camou, Marc G. Berger
wiley   +1 more source

Regulation of Cardiomyocyte Proliferation by microRNAs and Small Molecules [PDF]

, 2018
Understanding the molecular mechanisms regulating cardiac cell proliferation during the embryonic, fetal and adult life holds a paramount importance in view of developing innovative strategies aimed at inducing myocardial regeneration after cardiac ...
Torrini, Consuelo
core   +1 more source

NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls

Scientific Reports, 2017
Niemann-Pick type C1 (NPC1) disease is a rare autosomal recessive, neurodegenerative lysosomal storage disorder, which presents with a range of clinical phenotypes and hence diagnosis remains a challenge.
Fay Probert, Victor Ruiz-Rodado, Danielle te Vruchte, Elena-Raluca Nicoli, Tim D. W. Claridge, Christopher A. Wassif, Nicole Farhat, Forbes D. Porter, Frances M. Platt, Martin Grootveld   +9 more
doaj   +1 more source

Estado nutricional de los pacientes con diagnóstico de Niemann-Pick tipo C en Colombia

Revista de Nutrición Clínica y Metabolismo, 2019
La enfermedad de Niemann Pick tipo C, es una enfermedad neurovisceral de depósito lisosomal progresiva y debilitante cuyos síntomas tienen un impacto negativo en el estado nutricional de las personas que lo padecen. Sumado a lo anterior, se han descrito
Liliana Ladino Meléndez, Ana Lorena Montealegre Páez, Erika Ochoa   +2 more
doaj   +1 more source

Coutinho et al. Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. Int. J. Mol. Sci. 2016, 17, 1065 [PDF]

, 2017
Erratum for Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. [Int J Mol Sci.
Alves, Sandra, Coutinho, Maria Francisca, Santos, Juliana Inês   +2 more
core   +2 more sources

Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician

International Journal of Pediatrics, 2015
Niemann-Pick disease (NP-C) is a lysosomal storage disease in which impaired intracellular lipid transport leads to accumulation of cholesterol and glycosphingolipids in various neurovisceral tissues.
Hanna Alobaidy
doaj   +1 more source

Medical treatment of dystonia [PDF]

, 2016
Therapeutic strategies in dystonia have evolved considerably in the past few decades. Three major treatment modalities include oral medications, botulinum toxin injections and surgical therapies, particularly deep brain stimulation.
Pichet Termsarasab, Steven J. Frucht, Thananan Thammongkolchai   +2 more
core   +2 more sources