Patrick Edery Selected Research

Cytidine Diphosphate (CDP)

11/2015

ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation.

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Patrick Edery Research Topics

Disease

8	Intellectual Disability (Idiocy) 01/2021 - 07/2003
4	type 1 Microcephalic osteodysplastic primordial dwarfism 01/2023 - 04/2011
3	Microcephaly 01/2023 - 02/2012
2	Neurodevelopmental Disorders 10/2023 - 01/2017
2	Brain Diseases (Brain Disorder) 12/2019 - 01/2017
2	Cohen syndrome 01/2019 - 12/2015
2	Seizures (Absence Seizure) 01/2018 - 03/2008
2	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 12/2017 - 07/2015
2	Epilepsy (Aura) 12/2016 - 07/2008
2	Chondrodysplasia Punctata (Stippled Epiphyses) 11/2015 - 07/2015
2	Autoimmune Diseases (Autoimmune Disease) 11/2015 - 07/2015
2	Congenital Abnormalities (Deformity) 07/2015 - 05/2009
1	Neurodegenerative Diseases (Neurodegenerative Disease) 11/2023
1	Renpenning syndrome 1 11/2023
1	Dwarfism 11/2023
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2023
1	Rare Diseases (Rare Disease) 07/2022
1	Agenesis of Corpus Callosum 01/2021
1	Adducted Thumbs) Syndrome Shuffling Gait Aphasia MASA (Mental Retardation 01/2021
1	Paraplegia (Spastic Paraplegia) 01/2021
1	Aphasia (Dysphasia) 01/2021
1	Neurologic Gait Disorders (Gait, Hemiplegic) 01/2021
1	Hydrocephalus (Hydrocephaly) 01/2021
1	Pathologic Constriction (Stenosis) 01/2021
1	Microphthalmos 01/2020
1	Neutropenia 01/2019
1	Cognitive Dysfunction 01/2018
1	Portal Hypertension 12/2017
1	Ascites 12/2017
1	Hydrops Fetalis (Fetal Edema) 12/2017
1	Disease Progression 12/2017
1	Hypoalbuminemia 12/2017
1	Protein-Losing Enteropathies (Protein-Losing Enteropathy) 12/2017
1	Pericarditis 12/2017
1	Nephrotic Syndrome (Syndrome, Nephrotic) 12/2017
1	Liver Failure 12/2017
1	Cardiomyopathies (Cardiomyopathy) 12/2017
1	Penis agenesis 03/2017
1	Cryptorchidism (Undescended Testes) 03/2017
1	Hypospadias 03/2017
1	Movement Disorders (Movement Disorder) 01/2017
1	Infantile Spasms (West Syndrome) 01/2016
1	Insulin Resistance 12/2015
1	Diabetes Mellitus 12/2015
1	Type 2 Diabetes Mellitus (MODY) 12/2015
1	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 07/2015
1	Lathosterolosis 07/2015
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 07/2015
1	Brachytelephalangic Chondrodysplasia Punctata 07/2015
1	Chromosome Aberrations (Chromosome Abnormalities) 07/2015
1	Antley-Bixler Syndrome Phenotype 07/2015
1	Desmosterolosis 07/2015
1	Peroxisomal Disorders (Peroxisomal Disorder) 07/2015
1	Rhizomelic Chondrodysplasia Punctata 07/2015
1	HEM dysplasia 07/2015
1	Hereditary Hemorrhagic Telangiectasia 05/2014
1	Epistaxis (Nosebleed) 05/2014
1	X-Linked Mental Retardation (Mental Retardation, X Linked) 05/2013
1	Multiple Hamartoma Syndrome (Cowden's Disease) 03/2013

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 11/2023 - 07/2008
4	Small Nuclear RNA (snRNA)IBA 01/2023 - 04/2011
2	Biomarkers (Surrogate Marker)IBA 11/2023 - 10/2023
2	Nonsense Codon (Nonsense Mutation)IBA 01/2020 - 05/2007
2	DNA (Deoxyribonucleic Acid)IBA 01/2020 - 01/2018
2	Hormones (Hormone)IBA 03/2017 - 05/2009
2	Vitamin K FDA Link 07/2015 - 03/2005
2	Carrier Proteins (Binding Protein)IBA 07/2015 - 05/2007
1	Complementary DNA (cDNA)IBA 11/2023
1	Messenger RNA (mRNA)IBA 11/2023
1	Serine (L-Serine)FDA Link 11/2023
1	Small Nuclear Ribonucleoproteins (snRNP)IBA 01/2023
1	Calcium Carbonate (Limestone)FDA Link 07/2022
1	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 01/2021
1	Aspartate-Ammonia Ligase (Asparagine Synthetase)IBA 12/2019
1	Anticonvulsants (Antiepileptic Drugs)IBA 01/2019
1	SerpinsIBA 01/2019
1	Glutamine (L-Glutamine)FDA Link 01/2018
1	Valproic Acid (Depakote)FDA LinkGeneric 01/2018
1	Transaminases (Aminotransferases)IBA 12/2017
1	Congenital disorder of glycosylation type 1AIBA 12/2017
1	phosphomannomutaseIBA 12/2017
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 01/2017
1	RetinoidsIBA 12/2016
1	Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA 12/2016
1	Peptide Elongation Factors (Elongation Factor)IBA 01/2016
1	Insulin (Novolin)FDA Link 12/2015
1	Glucose (Dextrose)FDA LinkGeneric 12/2015
1	A 7 (A-7)IBA 11/2015
1	Cytidine Diphosphate (CDP)IBA 11/2015
1	AntibodiesIBA 11/2015
1	CholesterolIBA 07/2015
1	emopamil (levemopamil)IBA 07/2015
1	SqualeneIBA 07/2015
1	SterolsIBA 07/2015
1	Nasal SpraysIBA 05/2014
1	Bevacizumab (Avastin)FDA Link 05/2014
1	rho GTPase-activating proteinIBA 05/2013
1	TensinsIBA 03/2013
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 03/2013

Therapy/Procedure

1	Nutritional Support (Artificial Feeding) 12/2017