Anion/Sugar Transporter (AST)
SLC17A5; SD; ISSD; NSD; SIALIN; SIASD; SLD; Solute Carrier Family 17 Member 5; Sialic Acid Storage Disease; Vesicular H(+)/Aspartate-glutamate cotransporter
The SLC17A5 gene encodes a vesicular excitatory amino acid transporter (VEAT) with dual physiologic functions. When present in synaptic vesicles in the central nervous system, sialin is responsible for vesicular storage and subsequent exocytosis of aspartate and glutamate. When present in lysosomes, it acts as an H(+)-coupled sialic acid exporter.
The isolated sequence encoded a predicted 495-residue protein with homology to members of the anion/cation symporter (ACS) family of transporters. This family contains eukaryotic inorganic anion transporters (such as Na+/phosphate cotransporters) as well as prokaryotic organic anion transporters (including H+/acid sugar symporters for hexuronate and glucarate).
Organism species: Homo sapiens (Human)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Anion/Sugar Transporter (AST) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Anion/Sugar Transporter (AST) | Bioactivity | |
| Antibodies | MS418Hu21 | Monoclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IP. |
| PS418Hu01 | Polyclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Anion/Sugar Transporter (AST) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Anion/Sugar Transporter (AST) | CLIA assay for Antigen Detection |
Organism species: Mus musculus (Mouse)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Anion/Sugar Transporter (AST) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Anion/Sugar Transporter (AST) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Anion/Sugar Transporter (AST) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Anion/Sugar Transporter (AST) | CLIA assay for Antigen Detection |
Organism species: Rattus norvegicus (Rat)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Anion/Sugar Transporter (AST) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Anion/Sugar Transporter (AST) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Anion/Sugar Transporter (AST) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Anion/Sugar Transporter (AST) | CLIA assay for Antigen Detection |
Organism species: Canis familiaris; Canine (Dog)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Anion/Sugar Transporter (AST) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Anion/Sugar Transporter (AST) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Anion/Sugar Transporter (AST) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Anion/Sugar Transporter (AST) | CLIA assay for Antigen Detection |
Organism species: Sus scrofa; Porcine (Pig)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Anion/Sugar Transporter (AST) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Anion/Sugar Transporter (AST) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Anion/Sugar Transporter (AST) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Anion/Sugar Transporter (AST) | CLIA assay for Antigen Detection |
Organism species: Bos taurus; Bovine (Cattle)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Anion/Sugar Transporter (AST) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Anion/Sugar Transporter (AST) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Anion/Sugar Transporter (AST) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Anion/Sugar Transporter (AST) | CLIA assay for Antigen Detection |
Organism species: Rhesus monkey (Simian)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Anion/Sugar Transporter (AST) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Anion/Sugar Transporter (AST) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Anion/Sugar Transporter (AST) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Anion/Sugar Transporter (AST) | CLIA assay for Antigen Detection |
Organism species: Chicken (Gallus)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Anion/Sugar Transporter (AST) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Anion/Sugar Transporter (AST) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Anion/Sugar Transporter (AST) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Anion/Sugar Transporter (AST) | CLIA assay for Antigen Detection |
Organism species: Ovis aries; Ovine (Sheep)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Anion/Sugar Transporter (AST) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Anion/Sugar Transporter (AST) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Anion/Sugar Transporter (AST) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Anion/Sugar Transporter (AST) | CLIA assay for Antigen Detection |
Organism species: Oryctolagus cuniculus (Rabbit)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Anion/Sugar Transporter (AST) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Anion/Sugar Transporter (AST) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Anion/Sugar Transporter (AST) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Anion/Sugar Transporter (AST) | CLIA assay for Antigen Detection |
Organism species: Cavia (Guinea pig )
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Anion/Sugar Transporter (AST) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Anion/Sugar Transporter (AST) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Anion/Sugar Transporter (AST) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Anion/Sugar Transporter (AST) | CLIA assay for Antigen Detection |
Organism species: Equus caballus; Equine (Horse)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Anion/Sugar Transporter (AST) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Anion/Sugar Transporter (AST) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Anion/Sugar Transporter (AST) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Anion/Sugar Transporter (AST) | CLIA assay for Antigen Detection |
Organism species: Capra hircus; Caprine (Goat)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Anion/Sugar Transporter (AST) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Anion/Sugar Transporter (AST) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Anion/Sugar Transporter (AST) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Anion/Sugar Transporter (AST) | CLIA assay for Antigen Detection |
Organism species: Pan-species (General)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Anion/Sugar Transporter (AST) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Anion/Sugar Transporter (AST) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Anion/Sugar Transporter (AST) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Anion/Sugar Transporter (AST) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Anion/Sugar Transporter (AST) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Anion/Sugar Transporter (AST) | CLIA assay for Antigen Detection |
Reference
"Identification of a novel membrane protein, HP59, with therapeutic potential as a target of tumor angiogenesis."
Clin. Cancer Res. 7:4182-4194(2001) [PubMed] [Europe PMC] [Abstract]
"A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases."
Nat. Genet. 23:462-465(1999) [PubMed] [Europe PMC] [Abstract]
"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
"The DNA sequence and analysis of human chromosome 6."
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
"Functional characterization of wild-type and mutant human sialin."
EMBO J. 23:4560-4570(2004) [PubMed] [Europe PMC] [Abstract]
"Integral and associated lysosomal membrane proteins."
Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]
"Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changes."
J. Biol. Chem. 285:19316-19323(2010) [PubMed] [Europe PMC] [Abstract]
"Functional characterization of vesicular excitatory amino acid transport by human sialin."
J. Neurochem. 119:1-5(2011) [PubMed] [Europe PMC] [Abstract]
"Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane."
Proc. Natl. Acad. Sci. U.S.A. 109:13434-13439(2012) [PubMed] [Europe PMC] [Abstract]
"The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation."
Am. J. Hum. Genet. 67:832-840(2000) [PubMed] [Europe PMC] [Abstract]
"Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs."
Am. J. Med. Genet. A 120:23-27(2003) [PubMed] [Europe PMC] [Abstract]