| 1 |
2022 |
Claudia Capitini, Federica Feo, Anna Caciotti, Rodolfo Tonin, Matteo Lulli, Domenico Coviello, Renzo Guerrini, Martino Calamai, Amelia Morrone. Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C, Biomedicines. 2022; 10: 1962.
https://doi.org/10.3390/biomedicines10081962 |
| 2 |
2023 |
Macarena Las Heras, Benjamín Szenfeld, Rami A. Ballout, Emanuele Buratti, Silvana Zanlungo, Andrea Dardis, Andrés D. Klein. Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine, npj Genomic Medicine. 2023; 8: 21.
https://doi.org/10.1038/s41525-023-00365-w |
| 3 |
2024 |
Dhamidhu Eratne, Courtney Lewis, Wendy Kelso, Samantha Loi, Wei-Hsuan Michelle Chiu, Kaj Blennow, Henrik Zetterberg, Alexander F Santillo, Dennis Velakoulis, Mark Walterfang. Plasma neurofilament light chain is increased in Niemann-Pick Type C but glial fibrillary acidic protein remains normal, Acta Neuropsychiatrica. 2024; 1.
https://doi.org/10.1017/neu.2024.14 |
| 4 |
2024 |
Sydney Stern, Karryn Crisamore, Robert Schuck, Michael Pacanowski. Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC), Orphanet Journal of Rare Diseases. 2024; 19: 280.
https://doi.org/10.1186/s13023-024-03233-7 |
| 5 |
2024 |
André B. P. van Kuilenburg, Ana Pop, Ben J. H. M. Poorthuis, Susanna M. I. Goorden. 2024; 211.
https://doi.org/10.1007/978-3-031-58819-8_12 |
| 6 |
2024 |
Sonali Mishra, Pamela Kell, David Scherrer, Dennis J. Dietzen, Charles H. Vite, Elizabeth Berry-Kravis, Cristin Davidson, Stephanie M. Cologna, Forbes D. Porter, Daniel S. Ory, Xuntian Jiang. Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1, Journal of Lipid Research. 2024; 65: 100600100600.
https://doi.org/10.1016/j.jlr.2024.100600 |
| 7 |
2022 |
Dror Kraus, Huda Abdelrahim, Orith Waisbourd-Zinman, Elena Domin, Avraham Zeharia, Orna Staretz-Chacham. Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement, Children. 2022; 9: 545.
https://doi.org/10.3390/children9040545 |
| 8 |
2023 |
Antoine Gardin, Charlotte Mussini, Bénédicte Héron, Manuel Schiff, Anaïs Brassier, Dries Dobbelaere, Pierre Broué, Caroline Sevin, Marie T. Vanier, Dalila Habes, Emmanuel Jacquemin, Emmanuel Gonzales. A Retrospective Multicentric Study of 34 Patients with Niemann–Pick Type C Disease and Early Liver Involvement in France, The Journal of Pediatrics. 2023; 254: 75.
https://doi.org/10.1016/j.jpeds.2022.10.015 |
| 9 |
2024 |
Syed Mohammed, Ashikabanu Mujibur Rahman, Akshai R. Infantile Cholestatic Jaundice: A Variant of Niemann-Pick Disease Type C2, Cureus. 2024;
https://doi.org/10.7759/cureus.69506 |
| 10 |
2024 |
Burcu Civelek-Ürey, Cigdem Seher Kasapkara, Gürsel Biberoğlu, Rıdvan Murat Öktem, Mehmet Gunduz, Oya Kıreker-Köylü, Burak Yürek, Berrak Bilginer Gürbüz, Leyla Tumer. Evaluation of Lysosphingolipid Analysis for the Diagnosis of
Lysosomal Storage Disease, Klinische Pädiatrie. 2024;
https://doi.org/10.1055/a-2343-5616 |
| 11 |
2023 |
Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, Pierre Broué, Claude Cances, Brigitte Chabrol, Didier Eyer, François Labarthe, Philippe Latour, Thierry Levade, Samia Pichard, Caroline Sevin, Marie T. Vanier, Benedicte HERON. 2023;
https://doi.org/10.21203/rs.3.rs-2783990/v1 |
| 12 |
2023 |
Emma Golden, Raquel van Gool, Mariesa Cay, Benjamin Goodlett, Amanda Cao, Walla Al-Hertani, Jaymin Upadhyay. The experience of living with Niemann–Pick type C: a patient and caregiver perspective, Orphanet Journal of Rare Diseases. 2023; 18: 120.
https://doi.org/10.1186/s13023-023-02741-2 |
| 13 |
2023 |
An N. Dang Do, Irene J. Chang, Xutian Jiang, Lynne A. Wolfe, Bobby G. Ng, Christina Lam, Rhonda E. Schnur, Katrina Allis, Hana Hansikova, Nina Ondruskova, Shawn D. O'Connor, Amarilis Sanchez‐Valle, Arve Vollo, Raymond Y. Wang, Zoe Wolfenson, John Perreault, Daniel S. Ory, Hudson H. Freeze, J. Lawrence Merritt, Forbes D. Porter. Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation, Journal of Inherited Metabolic Disease. 2023; 46: 326.
https://doi.org/10.1002/jimd.12595 |
| 14 |
2023 |
Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, Pierre Broué, Claude Cances, Brigitte Chabrol, Didier Eyer, François Labarthe, Philippe Latour, Thierry Levade, Samia Pichard, Caroline Sevin, Marie T. Vanier, Bénédicte Héron. Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study, Orphanet Journal of Rare Diseases. 2023; 18: 204.
https://doi.org/10.1186/s13023-023-02804-4 |
| 15 |
2024 |
Nicole Y. Farhat, Derek Alexander, Kyli McKee, James Iben, Jorge L. Rodriguez-Gil, Christopher A. Wassif, Niamh X. Cawley, William E. Balch, Forbes D. Porter. Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1, International Journal of Molecular Sciences. 2024; 25: 4217.
https://doi.org/10.3390/ijms25084217 |
