U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 41

1.
Psychiatric symptoms in Salla disease
Ida Aulanko, Elisa Rahikkala, Jukka Moilanen
Eur Child Adolesc Psychiatry. 2023; 32(10): 2043–2047. Published online 2022 Jul 7. doi: 10.1007/s00787-022-02031-5
PMCID:
PMC10533638
AbstractArticlePDF–353K
2.
Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts.
M Renlund, P T Kovanen, K O Raivio, P Aula, C G Gahmberg, C Ehnholm
J Clin Invest. 1986 Feb; 77(2): 568–574. doi: 10.1172/JCI112338
PMCID:
PMC423384
SummaryPage BrowsePDF–1.2M
3.
Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.
J Schleutker, P Sistonen, P Aula
J Med Genet. 1996 Jan; 33(1): 36–41. doi: 10.1136/jmg.33.1.36
PMCID:
PMC1051809
SummaryPage BrowsePDF–1005K
4.
Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.
J Schleutker, P Leppänen, J E Månsson, A Erikson, J Weissenbach, L Peltonen, P Aula
Am J Hum Genet. 1995 Oct; 57(4): 893–901.
PMCID:
PMC1801488
SummaryPage BrowsePDF–1.3M
5.
An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation
Liisa E. Paavola, Anne M. Remes, Pirkko H. Sonninen, Vesa V. Kiviniemi, Tapio T. Korhonen, Kari Majamaa
Case Rep Neurol Med. 2012; 2012: 615721. Published online 2012 Nov 22. doi: 10.1155/2012/615721
PMCID:
PMC3512220
AbstractArticlePDF–909K
6.
A 13-year follow-up of Finnish patients with Salla disease
Liisa E. Paavola, Anne M. Remes, Marika J. Harila, Tarja T. Varho, Tapio T. Korhonen, Kari Majamaa
J Neurodev Disord. 2015; 7(1): 20. Published online 2015 Jul 13. doi: 10.1186/s11689-015-9116-7
PMCID:
PMC4499899
AbstractArticlePDF–492K
7.
Brain Involvement in Salla Disease
Pirkko Sonninen, Taina Autti, Tarja Varho, Mirja Hämäläinen, Raili Raininko
AJNR Am J Neuroradiol. 1999 Mar; 20(3): 433–443.
PMCID:
PMC7056084
AbstractArticlePDF–277K
8.
Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero
R Froissart, D Cheillan, R Bouvier, S Tourret, V Bonnet, M Piraud, I Maire
J Med Genet. 2005 Nov; 42(11): 829–836. Published online 2005 Apr 1. doi: 10.1136/jmg.2004.029744
PMCID:
PMC1735939
SummaryPDF–223K
9.
Sialic acid storage disease.
P D Cameron, V Dubowitz, G T Besley, A H Fensom
Arch Dis Child. 1990 Mar; 65(3): 314–315. doi: 10.1136/adc.65.3.314
PMCID:
PMC1792249
SummaryPage BrowsePDF–515K
10.
唾液酸贮积症伴胎儿水肿1例
毛 玮莹, 何 玥, 张 澜, 贺 其志, 孙 路明, 张 蓉
Zhongguo Dang Dai Er Ke Za Zhi. 2023 May 15; 25(5): 546–550. Chinese. doi: 10.7499/j.issn.1008-8830.2303041
PMCID:
PMC10247200
AbstractArticlePDF–4.3M
11.
The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.
L. Haataja, J. Schleutker, A. P. Laine, M. Renlund, M. L. Savontaus, C. Dib, J. Weissenbach, L. Peltonen, P. Aula
Am J Hum Genet. 1994 Jun; 54(6): 1042–1049.
PMCID:
PMC1918202
SummaryPage BrowsePDF–1.0M
12.
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease
Maja Tarailo-Graovac, Britt I. Drögemöller, Wyeth W. Wasserman, Colin J. D. Ross, Ans M. W. van den Ouweland, Niklas Darin, Gittan Kollberg, Clara D. M. van Karnebeek, Maria Blomqvist
Orphanet J Rare Dis. 2017; 12: 28. Published online 2017 Feb 10. doi: 10.1186/s13023-017-0584-6
PMCID:
PMC5303239
AbstractArticlePDF–1002K
13.
Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene
Afia Hasnain, Sherri Burnett, Ronald Agatep, Elizabeth Spriggs, Bernard Chodirker, Aizeddin (Aziz) A. Mhanni
Cold Spring Harb Mol Case Stud. 2021 Oct; 7(5): a006106. doi: 10.1101/mcs.a006106
PMCID:
PMC8559617
AbstractArticlePDF–2.5M
14.
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation
Matthew A. Lines, C. Anthony Rupar, Jack W. Rip, Berivan Baskin, Peter N. Ray, Robert A. Hegele, David Grynspan, Jean Michaud, Michael T. Geraghty
JIMD Rep. 2014; 12: 79–84. Published online 2013 Jul 31. doi: 10.1007/8904_2013_247
PMCID:
PMC3897797
AbstractArticlePDF–506K
15.
Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts.
H J Blom, H C Andersson, R Seppala, F Tietze, W A Gahl
Biochem J. 1990 Jun 15; 268(3): 621–625. doi: 10.1042/bj2680621
PMCID:
PMC1131484
SummaryPage BrowsePDF–987K
16.
Defective lysosomal release of glycoprotein-derived sialic acid in fibroblasts from patients with sialic acid storage disease.
K Mendla, J Baumkötter, C Rosenau, B Ulrich-Bott, M Cantz
Biochem J. 1988 Feb 15; 250(1): 261–267. doi: 10.1042/bj2500261
PMCID:
PMC1148842
SummaryPage BrowsePDF–1.1M
17.
Free Sialic Acid Storage Disease without sialuria
F. Mochel, B.Z. Yang, J. Barritault, J.N. Thompson, U.F.H. Engelke, N.H McNeill, W.S. Benko, C.R. Kaneski, D.R. Adams, M. Tsokos, M. Abu-Asab, M. Huizing, F. Seguin, R.A. Wevers, J.H. Ding, F.W. Verheijen, R. Schiffmann
Ann Neurol. Author manuscript; available in PMC 2012 Nov 28.
Published in final edited form as: Ann Neurol. 2009 Jun; 65(6): 753–757. doi: 10.1002/ana.21624
PMCID:
PMC3508714
AbstractArticlePDF–497K
18.
Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS
Jeroen van den Bosch, Linda F. Oemardien, Malgorzata I. Srebniak, Monique Piraud, Jan G. M. Huijmans, Frans W. Verheijen, George J. G. Ruijter
J Inherit Metab Dis. 2011; 34(5): 1069–1073. Published online 2011 May 27. doi: 10.1007/s10545-011-9351-3
PMCID:
PMC3173643
AbstractArticlePDF–133K
19.
Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane
Lizheng Qin, Xibao Liu, Qifei Sun, Zhipeng Fan, Dengsheng Xia, Gang Ding, Hwei Ling Ong, David Adams, William A. Gahl, Changyu Zheng, Senrong Qi, Luyuan Jin, Chunmei Zhang, Liankun Gu, Junqi He, Dajun Deng, Indu S. Ambudkar, Songlin Wang
Proc Natl Acad Sci U S A. 2012 Aug 14; 109(33): 13434–13439. Published online 2012 Jul 9. doi: 10.1073/pnas.1116633109
PMCID:
PMC3421170
AbstractArticlePDF–1.4M
20.
Identification of a vesicular aspartate transporter
Takaaki Miyaji, Noriko Echigo, Miki Hiasa, Shigenori Senoh, Hiroshi Omote, Yoshinori Moriyama
Proc Natl Acad Sci U S A. 2008 Aug 19; 105(33): 11720–11724. Published online 2008 Aug 11. doi: 10.1073/pnas.0804015105
PMCID:
PMC2575331
AbstractArticlePDF–597K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center