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 |
---|---|
1996 | 1 |
2001 | 1 |
2007 | 1 |
2008 | 1 |
2009 | 1 |
2019 | 1 |
2024 | 0 |
Search Results
5 results
Results by year
Filters applied: . Clear all
Page 1
Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy.
Am J Hum Genet. 1996 Jan;58(1):65-74.
Am J Hum Genet. 1996.
PMID: 8554069
Free PMC article.
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.
Hulková H, Cervenková M, Ledvinová J, Tochácková M, Hrebícek M, Poupetová H, Befekadu A, Berná L, Paton BC, Harzer K, Böör A, Smíd F, Elleder M.
Hulková H, et al.
Hum Mol Genet. 2001 Apr 15;10(9):927-40. doi: 10.1093/hmg/10.9.927.
Hum Mol Genet. 2001.
PMID: 11309366
Item in Clipboard
Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.
Deconinck N, Messaaoui A, Ziereisen F, Kadhim H, Sznajer Y, Pelc K, Nassogne MC, Vanier MT, Dan B.
Deconinck N, et al.
Eur J Paediatr Neurol. 2008 Jan;12(1):46-50. doi: 10.1016/j.ejpn.2007.05.004. Epub 2007 Jul 5.
Eur J Paediatr Neurol. 2008.
PMID: 17616409
Item in Clipboard
Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.
Kuchar L, Ledvinová J, Hrebícek M, Mysková H, Dvoráková L, Berná L, Chrastina P, Asfaw B, Elleder M, Petermöller M, Mayrhofer H, Staudt M, Krägeloh-Mann I, Paton BC, Harzer K.
Kuchar L, et al.
Am J Med Genet A. 2009 Feb 15;149A(4):613-21. doi: 10.1002/ajmg.a.32712.
Am J Med Genet A. 2009.
PMID: 19267410
Free PMC article.
Item in Clipboard
Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.
Kolnikova M, Jungova P, Skopkova M, Foltan T, Gasperikova D, Mattosova S, Chandoga J.
Kolnikova M, et al.
J Mol Neurosci. 2019 Apr;67(4):559-563. doi: 10.1007/s12031-019-1259-7. Epub 2019 Jan 11.
J Mol Neurosci. 2019.
PMID: 30632081
Item in Clipboard
Cite
Cite