Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In three patients we find a known homozygous pathogenic mutation in the Homo sapiens solute carrier family 17 member 5 (SLC17A5), causing Salla disease.
|
31694657 |
2019 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.
|
28187749 |
2017 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of SLC17A5 revealed compound heterozygous likely pathogenic variants, namely, a known missense (c.291G>A) variant and a novel truncating (c.819+1G>A) variant, confirming the diagnosis of Salla disease at age 3.5 years.
|
28662915 |
2017 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.
|
28662915 |
2017 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
|
27848944 |
2017 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Abstracts of the SSIEM 2014 Annual Symposium, 2-5 September, 2014, Innsbruck, Austria.
|
25085675 |
2014 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings.
|
24993898 |
2014 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
|
24767253 |
2014 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.
|
23900835 |
2014 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Aspartate and glutamate transport was not detected in the R39C and K136E mutant forms of SLC17A5 protein associated with Salla disease, whereas H+/sialic acid co-transport activity corresponded to 30-50% of the recombinant wild-type protein.
|
21781115 |
2011 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Aspartate and glutamate transport was not detected in the R39C and K136E mutant forms of SLC17A5 protein associated with Salla disease, whereas H+/sialic acid co-transport activity corresponded to 30-50% of the recombinant wild-type protein.
|
21781115 |
2011 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Aspartate and glutamate transport was not detected in the R39C and K136E mutant forms of SLC17A5 protein associated with Salla disease, whereas H+/sialic acid co-transport activity corresponded to 30-50% of the recombinant wild-type protein.
|
21781115 |
2011 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Aspartate and glutamate transport was not detected in the R39C and K136E mutant forms of SLC17A5 protein associated with Salla disease, whereas H+/sialic acid co-transport activity corresponded to 30-50% of the recombinant wild-type protein.
|
21781115 |
2011 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases.
|
20101035 |
2010 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our findings demonstrate that mutations in the SLC17A5 gene have to be considered in patients with hypomyelination, even in the absence of sialuria.
|
19557856 |
2009 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Free sialic acid storage disease without sialuria.
|
19557856 |
2009 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Identification of a vesicular aspartate transporter.
|
18695252 |
2008 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Prenatal diagnosis of free sialic acid storage disorders (SASD).
|
16715535 |
2006 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Prenatal diagnosis of free sialic acid storage disorders (SASD).
|
16715535 |
2006 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.
|
15805149 |
2005 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.
|
16170568 |
2005 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.
|
16170568 |
2005 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.
|
15805149 |
2005 |