| 1 |
33862140 | Free sialic acid storage disorder: Progress and promise. | 2021 Jun 11 |
6 |
| 2 |
34667062 | Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene. | 2021 Oct |
2 |
| 3 |
32608236 | Amino Acids Bearing Aromatic or Heteroaromatic Substituents as a New Class of Ligands for the Lysosomal Sialic Acid Transporter Sialin. | 2020 Aug 13 |
3 |
| 4 |
29440651 | Reconstruction of the sialylation pathway in the ancestor of eukaryotes. | 2018 Feb 13 |
1 |
| 5 |
28187749 | Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease. | 2017 Feb 10 |
1 |
| 6 |
28662915 | A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease. | 2017 Sep |
2 |
| 7 |
26727964 | A sequential bioorthogonal dual strategy: ManNAl and SiaNAl as distinct tools to unravel sialic acid metabolic pathways. | 2016 Feb 7 |
1 |
| 8 |
23900835 | Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation. | 2014 |
1 |
| 9 |
24993898 | The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings. | 2014 Sep |
1 |
| 10 |
22334707 | Successful prediction of substrate-binding pocket in SLC17 transporter sialin. | 2012 Mar 30 |
4 |
| 11 |
21781115 | Functional characterization of vesicular excitatory amino acid transport by human sialin. | 2011 Oct |
5 |
| 12 |
20424173 | Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changes. | 2010 Jun 18 |
1 |
| 13 |
21048299 | A vesicular transporter that mediates aspartate and glutamate neurotransmission. | 2010 |
1 |
| 14 |
19557856 | Free sialic acid storage disease without sialuria. | 2009 Jun |
1 |
| 15 |
18255354 | Embryonic expression patterns of Drosophila ACS family genes related to the human sialin gene. | 2008 Apr |
1 |
| 16 |
18399798 | Molecular pathogenesis of sialic acid storage diseases: insight gained from four missense mutations and a putative polymorphism of human sialin. | 2008 Sep |
2 |
| 17 |
18425435 | Molecular physiology and pathophysiology of lysosomal membrane transporters. | 2008 Apr |
1 |
| 18 |
17933575 | G328E and G409E sialin missense mutations similarly impair transport activity, but differentially affect trafficking. | 2007 Dec |
1 |
| 19 |
16540641 | Hypoxic culture induces expression of sialin, a sialic acid transporter, and cancer-associated gangliosides containing non-human sialic acid on human cancer cells. | 2006 Mar 15 |
3 |
| 20 |
16715535 | Prenatal diagnosis of free sialic acid storage disorders (SASD). | 2006 Aug |
2 |
| 21 |
15516337 | Varied mechanisms underlie the free sialic acid storage disorders. | 2005 Jan 14 |
2 |
| 22 |
16023578 | Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated. | 2005 Aug |
2 |
| 23 |
16158439 | Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population. | 2005 Oct 15 |
1 |
| 24 |
16170568 | Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. | 2005 Dec |
3 |
| 25 |
16417876 | Novel form of intermediate salla disease: clinical and neuroimaging features. | 2005 Oct |
2 |
| 26 |
15172001 | Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. | 2004 Jun |
3 |
| 27 |
15172005 | A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred. | 2004 Jun |
1 |
| 28 |
15510212 | Functional characterization of wild-type and mutant human sialin. | 2004 Nov 24 |
2 |
| 29 |
12794687 | Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. | 2003 Jul 1 |
2 |
| 30 |
12794688 | Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. | 2003 Jul 1 |
2 |
| 31 |
12359136 | Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin. | 2002 Sep-Oct |
2 |
| 32 |
11588980 | Lysosomal membrane proteins. | 2001 |
1 |
| 33 |
10947946 | The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. | 2000 Oct |
1 |
| 34 |
10069709 | Clinical spectrum of infantile free sialic acid storage disease. | 1999 Feb 19 |
2 |
| 35 |
10581036 | A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. | 1999 Dec |
1 |
| 36 |
7573152 | Infantile sialic acid storage disease: biochemical studies. | 1995 Jul 31 |
2 |
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8597831 | Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients. | 1995 May-Jun |
2 |
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20301643 | Free Sialic Acid Storage Disorders | 1993 |
4 |