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Carolyn Ellaway Selected Research

Nervous System Diseases (Neurological Disorders)

10/2020Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).

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Carolyn Ellaway Research Topics

Disease

6Rett Syndrome (Rett's Disorder)
01/2018 - 06/2008
5Mitochondrial Diseases (Mitochondrial Disease)
01/2022 - 01/2016
3Glycogen Storage Disease Type II (Pompe's Disease)
11/2020 - 11/2015
2Fabry Disease (Fabry's Disease)
11/2020 - 01/2016
2Scoliosis
05/2016 - 01/2016
2Phenylketonurias (Phenylketonuria)
01/2014 - 12/2005
1Muscular Diseases (Myopathy)
01/2022
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
07/2021
1Lysosomal Storage Diseases (Lysosomal Storage Disease)
11/2020
1Gaucher Disease (Gaucher's Disease)
11/2020
1Mucopolysaccharidoses
11/2020
1Nervous System Diseases (Neurological Disorders)
10/2020
1Atrophy
08/2020
1Hyperinsulinism (Hyperinsulinemia)
01/2020
1Hypoglycemia (Reactive Hypoglycemia)
01/2020
1Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
01/2020
1Inflammation (Inflammations)
12/2019
1Acute Liver Failure (Fulminant Hepatic Failure)
01/2019
1Neurodegenerative Diseases (Neurodegenerative Disease)
01/2019
1Osteoporosis
01/2016
1Respiratory Tract Infections (Respiratory Tract Infection)
01/2016
1Pyruvate Dehydrogenase Complex Deficiency Disease
01/2016
1Disease Progression
01/2016
1Infections
01/2016
1Weight Gain
12/2014
1Airway Obstruction (Choking)
12/2014
1Gagging
12/2014
1Brain Diseases (Brain Disorder)
12/2010
1Seizures (Absence Seizure)
12/2010
1Hypophosphatasia
12/2010
1Nemaline Myopathies (Nemaline Myopathy)
06/2008
1Autistic Disorder (Autism)
06/2008

Drug/Important Bio-Agent (IBA)

2sapropterin (tetrahydrobiopterin)FDA Link
01/2014 - 12/2005
2Phenylalanine (L-Phenylalanine)FDA Link
01/2014 - 12/2005
1Biomarkers (Surrogate Marker)IBA
01/2022
1Growth Differentiation Factor 15IBA
01/2022
1fibroblast growth factor 21IBA
01/2022
1DNA (Deoxyribonucleic Acid)IBA
01/2021
1RNA (Ribonucleic Acid)IBA
01/2021
1Lysergic Acid Diethylamide (LSD)IBA
11/2020
1Proteins (Proteins, Gene)FDA Link
11/2020
1KinesinsIBA
10/2020
1Adenosine Triphosphate (ATP)IBA
10/2020
1Diazoxide (Hyperstat)FDA Link
01/2020
1Hypoglycemic Agents (Hypoglycemics)IBA
01/2020
1Congenital disorder of glycosylation type 1AIBA
01/2020
1Biological ProductsIBA
12/2019
16-hydroxy-1,4,5,6-tetrahydronicotinamide adenine dinucleotideIBA
01/2019
1Hydro-Lyases (Dehydratases)IBA
01/2019
1NAD (NADH)IBA
01/2019
1EnzymesIBA
11/2018
1Dihydrotachysterol (AT 10)IBA
05/2016
1GlycosphingolipidsIBA
01/2016
1Mitochondrial DNA (mtDNA)IBA
01/2016
1Vitamin DFDA LinkGeneric
01/2016
1Diphosphonates (Bisphosphonates)IBA
01/2016
1CalciumIBA
01/2016
1GlucosidasesIBA
11/2015
1human GAA protein (Myozyme)FDA Link
11/2015
1AcidsIBA
11/2015
1Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA
01/2014
1Alkaline PhosphataseIBA
12/2010
1Pyridoxine (Pyridoxin)FDA LinkGeneric
12/2010
1Neurotransmitter Agents (Neurotransmitter)IBA
12/2010
1Tyrosine (L-Tyrosine)FDA Link
06/2008
1Methyl-CpG-Binding Protein 2IBA
06/2008

Therapy/Procedure

3Enzyme Replacement Therapy
08/2020 - 11/2015
2Liver Transplantation
07/2021 - 01/2019
2Therapeutics
11/2020 - 01/2020
2Gastrostomy
01/2018 - 12/2014
2Spinal Fusion (Spondylosyndesis)
01/2016 - 01/2016