Results 51 to 60 of about 3,855 (201)

Investigating rare haematological disorders - A celebration of 10 years of the Sherlock Holmes symposia [PDF]

, 2016
The Sherlock Holmes symposia have been educating haematologists on the need for prompt recognition, diagnosis and treatment of rare haematological diseases for 10 years. These symposia, which are supported by an unrestricted educational grant from Sanofi
Bauduer, F, Bjerrum, OW, Cappellini, MD, Cassiman, D, Fraga, C, Hughes, D, Huijgens, P, Jäger, U, Machaczka, M, Marinakis, T, Massenkeil, G, Mehta, A, Rosenbaum, H, Vallejo, C, Van Droogenbroeck, J, Villarrubia, J, Wondergem, M   +16 more
core   +1 more source

Natural‐History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Natural‐history datasets have become pivotal for drug development and for shaping clinical‐practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment‐outcome, and regulatory advances ...
Noor Ul Ain, Maya Vaishnaw, Pramod. K. Mistry   +2 more
wiley   +1 more source

Iminosugars: Effects of Stereochemistry, Ring Size, and N-Substituents on Glucosidase Activities

Pharmaceuticals, 2019
N-substituted iminosugar analogues are potent inhibitors of glucosidases and glycosyltransferases with broad therapeutic applications, such as treatment of diabetes and Gaucher disease, immunosuppressive activities, and antibacterial and antiviral ...
Luís O. B. Zamoner, Valquiria Aragão-Leoneti, Ivone Carvalho   +2 more
doaj   +1 more source

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. [PDF]

, 2017
PURPOSE OF REVIEW: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay.
Anheim, M, Bauer, P, Bonnot, O, Clayton, P, Dardis, A, Dionisi-Vici, C, Gissen, P, Klünemann, H-H, Latour, P, Lourenço, CM, Marquardt, T, Ory, DS, Parker, A, Patterson, MC, Pocoví, M, Strupp, M, Vanier, MT, Walterfang, M   +17 more
core   +3 more sources

Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. [PDF]

PLoS ONE, 2012
Niemann-Pick disease, type C1 (NPC1) is a fatal, neurodegenerative disorder for which there is no definitive therapy. In NPC1, a pathological cascade including neuroinflammation, oxidative stress and neuronal apoptosis likely contribute to the clinical ...
Stephanie M Cologna, Xiao-Sheng Jiang, Peter S Backlund, Celine V M Cluzeau, Michelle K Dail, Nicole M Yanjanin, Stephan Siebel, Cynthia L Toth, Hyun-sik Jun, Christopher A Wassif, Alfred L Yergey, Forbes D Porter   +11 more
doaj   +1 more source

Bidirectional links between Alzheimer's disease and Niemann-Pick type C disease [PDF]

, 2014
Alzheimer's disease (AD) and Niemann-Pick type C (NPC) disease are progressive neurodegenerative diseases with very different epidemiology and etiology.
Hećimović, Silva, Malnar, Martina, Mattsson, Niklas, Zetterberg, Henrik   +3 more
core   +1 more source

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza, Roberto Giugliani, Debra S. Regier, Jeanine Jarnes   +3 more
wiley   +1 more source

The mind’s eye: A neuro-ophthalmological perspective on Niemann-Pick type C disease

African Vision and Eye Health, 2019
Niemann-Pick disease type C (NPC) is a rare autosomal recessive genetic disease caused by mutations in the NPC1 and NPC2 genes with an estimated incidence of 1:120 000 live births. The clinical presentations vary across the ages.
Priyanka Beedasy, Anand Moodley, Adrian D. Marais   +2 more
doaj   +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

A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Cell trafficking disorders(CTDs) are rare, heterogeneous inherited conditions marked by impaired intracellular transport mechanisms such as vesicular trafficking, cytoskeletal dynamics, and organelle interactions. Although clinical awareness is increasing, CTDs are often underdiagnosed due to phenotypic overlap with mitochondrial, lysosomal ...
Merve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, Kanay Yararbaş, Tamer Çelik, Esra Sarıgeçili, Habibe Koç Uçar   +6 more
wiley   +1 more source