Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2011 | 1 |
2017 | 1 |
2018 | 1 |
2019 | 1 |
2020 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Page 1
The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.
Mol Genet Metab. 2020 Mar;129(3):228-235. doi: 10.1016/j.ymgme.2019.12.012. Epub 2019 Dec 30.
Mol Genet Metab. 2020.
PMID: 31937438
Free PMC article.
Review.
In this dataset, average age of diagnosis was 8.7 months, and average age of death was 18.9 months. DISCUSSION: This analysis demonstrates the predictable clinical course of this disease, as almost all patients experienced significant multi-organ system dysfunction …
In this dataset, average age of diagnosis was 8.7 months, and average age of death was 18.9 months. DISCUSSION: This analysis demonstrates t …
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A.
Caciotti A, et al.
Biochim Biophys Acta. 2011 Jul;1812(7):782-90. doi: 10.1016/j.bbadis.2011.03.018. Epub 2011 Apr 7.
Biochim Biophys Acta. 2011.
PMID: 21497194
Free PMC article.
Molecular analysis showed 27 mutations, 9 of which are new: 5 missense, 3 microdeletions and a nonsense mutation. We also identified four new genetic variants with a predicted polymorphic nature that was further investigated by in silico analyses. ...
Molecular analysis showed 27 mutations, 9 of which are new: 5 missense, 3 microdeletions and a nonsense mutation. We also identified four ne …
Item in Clipboard
Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study.
Nestrasil I, Ahmed A, Utz JM, Rudser K, Whitley CB, Jarnes-Utz JR.
Nestrasil I, et al.
Mol Genet Metab. 2018 Feb;123(2):97-104. doi: 10.1016/j.ymgme.2017.12.432. Epub 2017 Dec 20.
Mol Genet Metab. 2018.
PMID: 29352662
Free PMC article.
Notably, in patients with juvenile gangliosidosis, macrocephaly and elevated intracranial pressure were absent and total brain volume decreased with time compared to controls (P=0.004). CONCLUSIONS: The disease course of infantile versus juvenile gangliosidoses is clearly …
Notably, in patients with juvenile gangliosidosis, macrocephaly and elevated intracranial pressure were absent and total brain volume decrea …
Item in Clipboard
Cite
Cite