Sandrine Marie Selected Research

Adenylosuccinate Synthase (Synthase, Adenylosuccinate)

1/2022

Disorders of purine biosynthesis metabolism.

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Sandrine Marie Research Topics

Disease

2	Cystinosis 11/2019 - 01/2014
2	Intellectual Disability (Idiocy) 01/2009 - 07/2003
1	COVID-19 01/2022
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2022
1	Inflammation (Inflammations) 01/2022
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 10/2021
1	Fanconi Syndrome (Syndrome, Fanconi) 11/2019
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 11/2019
1	Disease Progression 11/2019
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2016
1	2-Hydroxyglutaricaciduria 01/2015
1	Tyrosinemias (Tyrosinemia) 11/2012
1	Angelman Syndrome (Syndrome, Angelman) 01/2009
1	Brain Diseases (Brain Disorder) 01/2009
1	Epilepsy (Aura) 01/2009
1	Blindness (Hysterical Blindness) 06/2004

Drug/Important Bio-Agent (IBA)

2	purineIBA 01/2022 - 06/2004
2	Cystine (L-Cystine)IBA 11/2019 - 01/2014
2	Adenylosuccinate lyase deficiencyIBA 01/2009 - 07/2003
1	Biomarkers (Surrogate Marker)IBA 01/2022
1	AcidsIBA 01/2022
1	Adenylosuccinate LyaseIBA 01/2022
1	Adenylosuccinate Synthase (Synthase, Adenylosuccinate)IBA 01/2022
1	Tryptophan (L-Tryptophan)FDA Link 01/2022
1	Neutral Amino AcidsIBA 01/2022
1	RibonucleotidesIBA 01/2022
1	Proline (L-Proline)FDA Link 01/2022
1	IMP cyclohydrolaseIBA 01/2022
1	phosphoribosylaminoimidazole- succinocarboxamide synthetaseIBA 01/2022
1	KynurenineIBA 01/2022
1	Ligases (Synthetase)IBA 01/2022
1	Hydroxymethyl and Formyl TransferasesIBA 01/2022
1	Low Density Lipoprotein Receptor-Related Protein-2IBA 11/2019
1	Blood Proteins (Serum Proteins)IBA 11/2019
1	Cysteamine (Mercaptamine)FDA Link 11/2019
1	DisulfidesIBA 11/2019
1	Riboflavin (Vitamin B2)FDA LinkGeneric 01/2016
1	Oxidoreductases (Dehydrogenase)IBA 01/2015
1	Carrier Proteins (Binding Protein)IBA 01/2014
1	Tyrosine (L-Tyrosine)FDA Link 11/2012
1	4-Hydroxyphenylpyruvate DioxygenaseIBA 11/2012
1	EnzymesIBA 11/2012
1	SAICARIBA 01/2009
1	acadesineIBA 06/2004
1	AICA ribonucleotide (ZMP)IBA 06/2004

Therapy/Procedure

1	Therapeutics 10/2021