Catheline Vilain Selected Research

Enteral Nutrition (Feeding, Tube)

1/2021

Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype.

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Catheline Vilain Research Topics

Disease

3	Intellectual Disability (Idiocy) 11/2020 - 05/2015
2	Brain Diseases (Brain Disorder) 01/2022 - 01/2022
2	Epilepsy (Aura) 01/2022 - 01/2022
1	Atrophy 04/2024
1	Fibrosis (Cirrhosis) 01/2023
1	Enterocolitis 01/2023
1	Muscle Weakness 01/2023
1	Vacuolar myopathy 01/2023
1	Anhidrotic Ectodermal Dysplasia 1 01/2023
1	Neurodevelopmental Disorders 01/2022
1	Acrodermatitis enteropathica 08/2021
1	Seizures (Absence Seizure) 07/2021
1	Pathologic Constriction (Stenosis) 01/2021
1	Failure to Thrive 01/2021
1	Cholestasis 01/2021
1	Exocrine Pancreatic Insufficiency 01/2021
1	Snyder Robinson syndrome 01/2021
1	Achalasia Addisonianism Alacrimia syndrome 01/2021
1	Cerebellar Ataxia (Dysmetria) 11/2020
1	Hypogonadism (Hypergonadotropic Hypogonadism) 09/2020
1	Mucopolysaccharidosis VII (Sly Syndrome) 01/2017
1	Glycogen Storage Disease (Glycogenosis) 01/2017
1	Dyggve-Melchior-Clausen syndrome 05/2015
1	Microcephaly 05/2015
1	Stroke (Strokes) 01/2014
1	Kidney Diseases (Kidney Disease) 01/2014
1	Porencephaly 01/2014
1	Kallmann Syndrome (Kallmann's Syndrome) 09/2013
1	Omani type Spondyloepiphyseal dysplasia 08/2012
1	Hypothyroidism 07/2012
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 09/2011
1	Thyroid Dysgenesis (Thyroid Agenesis) 09/2004

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 01/2023 - 01/2014
2	Anticonvulsants (Antiepileptic Drugs)IBA 07/2021 - 01/2019
1	Indicators and Reagents (Reagents)IBA 04/2024
1	EnzymesIBA 01/2023
1	EctodysplasinsIBA 01/2023
1	SodiumIBA 01/2022
1	Carbamazepine (Tegretol)FDA LinkGeneric 01/2022
1	citrate-binding transport proteinIBA 01/2022
1	gephyrinIBA 01/2022
1	ZincIBA 08/2021
1	Lamotrigine (Lamictal)FDA LinkGeneric 07/2021
1	Topiramate (Topamax)FDA LinkGeneric 07/2021
1	Levetiracetam (Keppra)FDA LinkGeneric 07/2021
1	Valproic Acid (Depakote)FDA LinkGeneric 07/2021
1	Retinaldehyde (Retinal)IBA 01/2021
1	SpermidineIBA 01/2021
1	SpermineIBA 01/2021
1	Carbonic Anhydrases (Carbonic Anhydrase)IBA 11/2020
1	Gonadotropin-Releasing Hormone (GnRH)FDA Link 09/2020
1	Prostaglandins BIBA 01/2017
1	polyglucosanIBA 01/2017
1	CollagenIBA 01/2014
1	Adenosine Triphosphate (ATP)IBA 09/2013
1	Phosphotransferases (Kinase)IBA 09/2013
1	MagnesiumIBA 09/2013
1	Phosphates (Orthophosphate)IBA 09/2013
1	CarbohydratesIBA 08/2012
1	ChondroitinIBA 08/2012
1	SulfotransferasesIBA 08/2012
1	IodineIBA 07/2012
1	Glucose (Dextrose)FDA LinkGeneric 09/2011
1	Transcription Factors (Transcription Factor)IBA 09/2004

Therapy/Procedure

1	Enteral Nutrition (Feeding, Tube) 01/2021