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Amish Infantile Epilepsy Syndrome

Known as: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME, Epilepsy Syndrome, Infantile-Onset Symptomatic, SPDRS 
National Institutes of Health

Related topics

Related topics

15 relations
Autosomal recessive inheritanceCortical visual impairmentDevelopmental regressionFailure to Thrive
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Broader (2)

EpilepsySialyltransferases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency.
Ganglioside GM3 synthase is a key enzyme involved in the biosynthesis of gangliosides. GM3 synthase deficiency (GM3D) causes an… Expand
2016
2016
Early growth and development impairments in patients with ganglioside GM3 synthase deficiency
Ganglioside GM3 synthase is a key enzyme involved in the biosynthesis of gangliosides. GM3 synthase deficiency (GSD) causes a… Expand
2016
2016
Quantification of monosialogangliosides in human plasma through chemical derivatization for signal enhancement in LC-ESI-MS.
Gangliosides are found in abundance in the central nervous system of vertebrates. Their metabolic disruption and dysfunction are… Expand
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2016
2016
Development and Validation of UPLC/MS/MS Methods for Quantification of Gangliosides in the Clinical Study of Ganglioside GM3 Synthase Deficiency
Gangliosides are a large subclass of glycosphingolipids that structurally characterized by the addition of monoor poly-sialyated… Expand
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2012
2012
Has the introduction of S&P 500 ETF options led to improvements in price discovery of SPDRs?
This study sets out to investigate trading in Standard and Poor's Depository Receipt Trust Series I (SPDR) options and the impact… Expand
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2007
2007
A Comparative Study of the Use and Understanding of Self-Presentational Display Rules in Children with High Functioning Autism and Asperger’s Disorder
The use and understanding of self-presentational display rules (SPDRs) was investigated in 21 children with high-functioning… Expand
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