infantile sialic acid storage disease

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infantile sialic acid storage disease

A rare lysosomal storage disease (OMIM:269920) characterised by accumulation of sialic acid in tissue and free sialic acid that is excreted in the urine.

Clinical findings
Severe developmental delay, hypotonia, failure to thrive, coarse facies, seizures, bone malformations, hepatosplenomegaly, cardiomegaly, death by age 2.

Molecular pathology
Caused by defects of SLC17A5, which encodes a solute transporter for anions, in particular, that of free sialic acid transport to lysosomes.
References in periodicals archive ?
Although current literature pertaining directly to music therapy and DID is stark, the ISSD (2005) outlines the benefits of expressive therapies, including music therapy, in the treatment of DID.
This can be applied through the use of CBT techniques to enable the client to recognise unhealthy patterns and behaviours, and to adapt to life stresses and interpersonal problems (Hien, Cohen, Miele, Litt, & Capstick, 2004; ISSD, 2005).
Although treatment goals as outlined in the ISSD (2005) are long-term processes, Lev-Weisel's goals have the capacity to be targeted in single music therapy sessions as outlined in the song writing session description above.
Otherwise, they'd have experienced the rigors of ISSD as beyond their abilities and stopped.
However, in ISSD it is not until designers begin to experience their values that they receive their first glimpses of the shape and boundaries of the project.
4] Nonstandard abbreviations: 'H-NMR, proton nuclear magnetic resonance; TLC, thin-layer chromatography; G1cNAc, N-acetylglucosamine; COSY, correlation spectroscopy; and ISSD, infantile sialic acid storage disorder.
ISSD brings Convergint rich expertise across the banking, education, and state and local government markets.
The company cultures of SDI and Convergint are closely aligned, which will provide the ISSD team with a smooth transition to many opportunities for advancement within Convergints growing security portfolio and services platform, said David Gupta, CEO of SDI Presence, the former parent company of ISSD.
ISSD shares in this service commitment and marks the twelfth acquisition Convergint has completed in the last two years.
Sembawang was contracted in late 2002 to provide a central procesing platform at ISSD, bridges and tie-ins to ISND.
Titan's ISSD is very optimistic about the new and very substantial business opportunities presented by this partnership," stated Bob Allen, executive vice president, ISSD.
Developing strong distribution channels with quality partners such as ISSD is a key component of our longer term sales strategy," added Jim Davies, president and chief operating officer at Kasten Chase.