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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

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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
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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
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
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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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