Laurence Perrin Selected Research

Pseudoaminopterin syndrome

9/2012

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Laurence Perrin Research Topics

Disease

4	Neurodevelopmental Disorders 01/2020 - 05/2017
2	Intellectual Disability (Idiocy) 01/2021 - 01/2020
2	Epilepsy (Aura) 06/2018 - 05/2017
1	Muscle Spasticity (Spastic) 01/2020
1	Autoimmune Diseases (Autoimmune Disease) 01/2020
1	DNA Repair-Deficiency Disorders (Chromosome Instability Syndromes) 01/2019
1	Brain Diseases (Brain Disorder) 12/2016
1	Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome) 12/2016
1	Optic Atrophy 12/2016
1	CHARGE Syndrome 10/2014
1	Cryptorchidism (Undescended Testes) 09/2012
1	Avitaminosis (Vitamin Deficiency) 09/2012
1	Pseudoaminopterin syndrome 09/2012
1	Mucopolysaccharidosis IV (Morquio Syndrome) 03/2012
1	Mucopolysaccharidoses 03/2012
1	Craniosynostoses (Craniosynostosis) 03/2010
1	Intracranial Hypertension 03/2010
1	Pycnodysostosis 03/2010
1	Inflammation (Inflammations) 10/2009
1	Nephrotic Syndrome (Syndrome, Nephrotic) 10/2007
1	Chronic Kidney Failure (Chronic Renal Failure) 10/2007
1	Autoimmune Polyendocrinopathies (Schmidt Syndrome) 01/2006
1	Candidiasis (Moniliasis) 01/2006
1	Proteinuria 01/2006

Drug/Important Bio-Agent (IBA)

2	Biomarkers (Surrogate Marker)IBA 01/2019 - 10/2009
2	Pharmaceutical PreparationsIBA 06/2018 - 10/2007
2	Prednisone (Sone)FDA LinkGeneric 10/2007 - 01/2006
2	SteroidsIBA 10/2007 - 01/2006
1	DNA Transposable Elements (Element, IS)IBA 01/2021
1	Proteins (Proteins, Gene)FDA Link 01/2021
1	Extracellular Matrix ProteinsIBA 01/2020
1	ChromatinIBA 01/2020
1	Transcription Factors (Transcription Factor)IBA 01/2020
1	Biological ProductsIBA 01/2020
1	Fragile X Mental Retardation ProteinIBA 01/2020
1	T-Cell Antigen Receptors (T-Cell Receptor)IBA 01/2019
1	Sodium Channel BlockersIBA 05/2017
1	Voltage-Gated Sodium ChannelsIBA 05/2017
1	Anticonvulsants (Antiepileptic Drugs)IBA 05/2017
1	SodiumIBA 05/2017
1	Sodium Channels (Sodium Channel)IBA 05/2017
1	Adaptor Protein Complex 3IBA 12/2016
1	Protein Isoforms (Isoforms)IBA 12/2016
1	Codon (Codons)IBA 10/2014
1	Nonsense Codon (Nonsense Mutation)IBA 10/2014
1	AminopterinIBA 09/2012
1	Folic Acid (Vitamin M)FDA LinkGeneric 09/2012
1	EnzymesIBA 03/2012
1	SulfatasesIBA 03/2012
1	GalactosidasesIBA 03/2012
1	Methylprednisolone FDA LinkGeneric 10/2007
1	Cyclosporine (Ciclosporin)FDA LinkGeneric 10/2007
1	Lipase (Acid Lipase)FDA Link 01/2006
1	Tacrolimus (Prograf)FDA LinkGeneric 01/2006
1	Mycophenolic Acid (Cellcept)FDA LinkGeneric 01/2006
1	AutoantibodiesIBA 01/2006
1	Amylases FDA Link 01/2006

Therapy/Procedure

2	Therapeutics 05/2017 - 01/2006
1	Sutures (Suture) 03/2010
1	Surgical Decompression 03/2010
1	Oral Administration 10/2007