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For: Gumus E, Haliloglu G, Karhan AN, Demir H, Gurakan F, Topcu M, Yuce A. Niemann-Pick disease type C in the newborn period: a single-center experience. Eur J Pediatr 2017;176:1669-1676. [PMID: 28951965 DOI: 10.1007/s00431-017-3020-y] [Citation(s) in RCA: 17] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/20/2017] [Revised: 09/09/2017] [Accepted: 09/19/2017] [Indexed: 02/07/2023]
Number Cited by Other Article(s)
1
Tao C, Zhao M, Zhang X, Hao J, Huo Q, Sun J, Xing J, Zhang Y, Zhao J, Huang H. Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature. BMC Infect Dis 2024;24:145. [PMID: 38291356 PMCID: PMC10826013 DOI: 10.1186/s12879-024-09025-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/09/2023] [Accepted: 01/17/2024] [Indexed: 02/01/2024]  Open
2
Mignani L, Guerra J, Corli M, Capoferri D, Presta M. Zebra-Sphinx: Modeling Sphingolipidoses in Zebrafish. Int J Mol Sci 2023;24:ijms24054747. [PMID: 36902174 PMCID: PMC10002607 DOI: 10.3390/ijms24054747] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/20/2023] [Revised: 02/24/2023] [Accepted: 02/27/2023] [Indexed: 03/06/2023]  Open
3
Gardin A, Mussini C, Héron B, Schiff M, Brassier A, Dobbelaere D, Broué P, Sevin C, Vanier MT, Habes D, Jacquemin E, Gonzales E. A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France. J Pediatr 2023;254:75-82.e4. [PMID: 36265573 DOI: 10.1016/j.jpeds.2022.10.015] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/11/2022] [Revised: 10/11/2022] [Accepted: 10/12/2022] [Indexed: 12/05/2022]
4
Sparks TN, Dugoff L. How to choose a test for prenatal genetic diagnosis: a practical overview. Am J Obstet Gynecol 2023;228:178-186. [PMID: 36029833 PMCID: PMC9877133 DOI: 10.1016/j.ajog.2022.08.039] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/06/2022] [Revised: 07/29/2022] [Accepted: 08/05/2022] [Indexed: 01/28/2023]
5
Sen Sarma M, Tripathi PR. Natural history and management of liver dysfunction in lysosomal storage disorders. World J Hepatol 2022;14:1844-1861. [PMID: 36340750 PMCID: PMC9627439 DOI: 10.4254/wjh.v14.i10.1844] [Citation(s) in RCA: 6] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/27/2021] [Revised: 04/21/2022] [Accepted: 09/21/2022] [Indexed: 02/06/2023]  Open
6
Quelhas P, Jacinto J, Cerski C, Oliveira R, Oliveira J, Carvalho E, dos Santos J. Protocols of Investigation of Neonatal Cholestasis-A Critical Appraisal. Healthcare (Basel) 2022;10:2012. [PMID: 36292464 PMCID: PMC9602084 DOI: 10.3390/healthcare10102012] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/29/2022] [Revised: 10/06/2022] [Accepted: 10/08/2022] [Indexed: 11/04/2022]  Open
7
Neonatal cholestasis and Niemann-pick type C disease: A literature review. Clin Res Hepatol Gastroenterol 2021;45:101757. [PMID: 34303826 DOI: 10.1016/j.clinre.2021.101757] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/08/2020] [Revised: 06/16/2021] [Accepted: 06/23/2021] [Indexed: 02/04/2023]
8
Paget TL, Parkinson-Lawrence EJ, Orgeig S. The role of surfactant and distal lung dysfunction in the pathology of lysosomal storage diseases. CURRENT OPINION IN PHYSIOLOGY 2021. [DOI: 10.1016/j.cophys.2021.100467] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/29/2022]
9
Rodriguez-Gil JL, Baxter LL, Watkins-Chow DE, Johnson NL, Davidson CD, Carlson SR, Incao AA, Wallom KL, Farhat NY, Platt FM, Dale RK, Porter FD, Pavan WJ. Transcriptome of HPβCD-treated Niemann-pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics. Hum Mol Genet 2021;30:2456-2468. [PMID: 34296265 DOI: 10.1093/hmg/ddab194] [Citation(s) in RCA: 15] [Impact Index Per Article: 3.8] [Reference Citation Analysis] [Abstract] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/17/2021] [Revised: 05/20/2021] [Accepted: 06/29/2021] [Indexed: 11/12/2022]  Open
10
Bueno-Lozano O, Valle-Guillén S, Rodríguez G, López de Frutos L, Ventura-Faci P. [Neonatal-onset Niemann-Pick type C disease with COVID-19 infection]. An Pediatr (Barc) 2021:S1695-4033(21)00147-8. [PMID: 33832857 PMCID: PMC7931683 DOI: 10.1016/j.anpedi.2021.02.014] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/21/2021] [Accepted: 02/16/2021] [Indexed: 11/19/2022]  Open
11
Understanding and Treating Niemann-Pick Type C Disease: Models Matter. Int J Mol Sci 2020;21:ijms21238979. [PMID: 33256121 PMCID: PMC7730076 DOI: 10.3390/ijms21238979] [Citation(s) in RCA: 17] [Impact Index Per Article: 3.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/06/2020] [Revised: 11/20/2020] [Accepted: 11/23/2020] [Indexed: 02/06/2023]  Open
12
Yıldız Y, Sivri HS. Inborn errors of metabolism in the differential diagnosis of fatty liver disease. TURKISH JOURNAL OF GASTROENTEROLOGY 2020;31:3-16. [PMID: 32009609 DOI: 10.5152/tjg.2019.19367] [Citation(s) in RCA: 11] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
13
Santos Silva E, Almeida A, Frutuoso S, Martins E, Valente MJ, Santos-Silva A, Lopes AI. Neonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort of 154 Patients From a Portuguese Tertiary Center. Front Pediatr 2020;8:351. [PMID: 32695736 PMCID: PMC7338938 DOI: 10.3389/fped.2020.00351] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/30/2020] [Accepted: 05/27/2020] [Indexed: 01/23/2023]  Open
14
NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology. J Clin Med 2019;9:jcm9010012. [PMID: 31861571 PMCID: PMC7019814 DOI: 10.3390/jcm9010012] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/16/2019] [Revised: 12/11/2019] [Accepted: 12/17/2019] [Indexed: 12/17/2022]  Open
15
Bräuer AU, Kuhla A, Holzmann C, Wree A, Witt M. Current Challenges in Understanding the Cellular and Molecular Mechanisms in Niemann-Pick Disease Type C1. Int J Mol Sci 2019;20:ijms20184392. [PMID: 31500175 PMCID: PMC6771135 DOI: 10.3390/ijms20184392] [Citation(s) in RCA: 28] [Impact Index Per Article: 4.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/26/2019] [Revised: 09/04/2019] [Accepted: 09/05/2019] [Indexed: 02/06/2023]  Open
16
Gadolinium Chloride Rescues Niemann⁻Pick Type C Liver Damage. Int J Mol Sci 2018;19:ijms19113599. [PMID: 30441844 PMCID: PMC6274821 DOI: 10.3390/ijms19113599] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/29/2018] [Revised: 11/01/2018] [Accepted: 11/02/2018] [Indexed: 02/07/2023]  Open
17
Tseng WC, Loeb HE, Pei W, Tsai-Morris CH, Xu L, Cluzeau CV, Wassif CA, Feldman B, Burgess SM, Pavan WJ, Porter FD. Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds. Dis Model Mech 2018;11:11/9/dmm034165. [PMID: 30135069 PMCID: PMC6176986 DOI: 10.1242/dmm.034165] [Citation(s) in RCA: 36] [Impact Index Per Article: 5.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/13/2018] [Accepted: 06/11/2018] [Indexed: 12/27/2022]  Open
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