Beth L Thurberg Selected Research

Phenylketonurias (Phenylketonuria)

1/2021

CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria.

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Beth L Thurberg Research Topics

Disease

25	Glycogen Storage Disease Type II (Pompe's Disease) 01/2020 - 11/2004
11	Niemann-Pick Diseases (Niemann Pick Disease) 01/2022 - 05/2009
9	Fabry Disease (Fabry's Disease) 01/2019 - 12/2002
6	Lysosomal Storage Diseases (Lysosomal Storage Disease) 09/2020 - 12/2002
5	Glycogen Storage Disease (Glycogenosis) 02/2016 - 01/2005
4	Fibrosis (Cirrhosis) 09/2020 - 11/2012
4	Glycogen Storage Disease IIIA 02/2016 - 11/2012
3	Muscular Diseases (Myopathy) 06/2014 - 01/2005
3	Cardiomyopathies (Cardiomyopathy) 06/2011 - 01/2005
2	Hepatomegaly 09/2020 - 01/2016
2	Type A Niemann-Pick Disease 09/2020 - 01/2016
2	Spasm (Spasms) 01/2020 - 01/2018
2	Tremor (Tremors) 01/2020 - 01/2018
2	Liver Cirrhosis (Hepatic Cirrhosis) 02/2016 - 06/2014
2	Inflammation (Inflammations) 01/2016 - 02/2015
2	Type B Niemann-Pick Disease 01/2016 - 08/2012
2	Glycogen Storage Disease Type III (Cori's Disease) 06/2014 - 02/2013
2	Respiratory Insufficiency (Respiratory Failure) 02/2010 - 01/2005
2	Muscle Weakness 12/2006 - 01/2005
1	Splenomegaly 01/2022
1	Hypopigmentation (Hypomelanosis) 01/2021
1	Phenylketonurias (Phenylketonuria) 01/2021
1	Glycogen Storage Disease Type IV (Andersen's Disease) 01/2017
1	Liver Diseases (Liver Disease) 02/2016
1	Disease Progression 02/2016
1	Neurologic Manifestations (Neurological Manifestations) 01/2016
1	Pain (Aches) 01/2016
1	Fever (Fevers) 01/2016
1	Vomiting 01/2016
1	Drug-Related Side Effects and Adverse Reactions 01/2016
1	Acute-Phase Reaction 01/2016
1	Nausea 01/2016
1	Lung Diseases (Lung Disease) 09/2015
1	Hypersensitivity (Allergy) 09/2015
1	Hemorrhage 02/2015
1	Shock 02/2015
1	Neuromuscular Diseases (Neuromuscular Disease) 01/2013
1	Rare Diseases (Rare Disease) 08/2012
1	Ascending Aorta Aneurysm 08/2012
1	Vacuolar myopathy 08/2012
1	Muscle Hypotonia (Hypotonia) 06/2011
1	Gaucher Disease (Gaucher's Disease) 06/2011

Drug/Important Bio-Agent (IBA)

20	AcidsIBA 01/2019 - 01/2005
17	GlycogenIBA 01/2017 - 11/2004
11	human GAA protein (Myozyme)FDA Link 01/2019 - 11/2004
9	EnzymesIBA 09/2020 - 01/2005
8	SphingomyelinsIBA 09/2020 - 05/2009
8	alpha-Glucosidases (Acid Maltase)IBA 02/2010 - 01/2005
7	GlucosidasesIBA 01/2019 - 11/2010
6	Biomarkers (Surrogate Marker)IBA 02/2016 - 07/2009
6	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 01/2016 - 05/2009
5	olipudase alfaIBA 01/2022 - 09/2015
5	globotriaosylceramide (globotriosylceramide)IBA 06/2017 - 12/2002
3	LipidsIBA 09/2020 - 09/2015
3	neodymium pyrocatechin disulfonate (NPD)IBA 09/2020 - 09/2015
3	agalsidase beta FDA Link 01/2019 - 04/2009
3	alpha-Galactosidase (Beano)IBA 06/2017 - 12/2002
3	GalactosidasesIBA 03/2015 - 06/2011
2	Proteins (Proteins, Gene)FDA Link 01/2021 - 11/2008
2	Albuterol (Salbutamol)FDA LinkGeneric 01/2020 - 02/2012
2	ClenbuterolIBA 01/2018 - 02/2012
2	Glycogen Debranching Enzyme System (Glycogen Debranching Enzyme)IBA 02/2016 - 11/2012
2	Creatine Kinase (Creatine Phosphokinase)IBA 02/2016 - 06/2011
2	AntibodiesIBA 09/2015 - 12/2002
2	CationsIBA 01/2013 - 08/2005
2	IGF Type 2 Receptor (Insulin-Like-Growth-Factor II Receptor)IBA 01/2013 - 11/2010
2	LigandsIBA 08/2005 - 11/2004
1	Carbon MonoxideIBA 01/2022
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2021
1	Neurotransmitter Agents (Neurotransmitter)IBA 01/2021
1	Phenylalanine (L-Phenylalanine)FDA Link 01/2021
1	Pharmaceutical PreparationsIBA 01/2020
1	MM Form Creatine KinaseIBA 01/2018
1	1,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)IBA 01/2017
1	polyglucosanIBA 01/2017
1	Interleukin-8 (Interleukin 8)IBA 01/2016
1	Calcitonin (Calcitonin, Eel)FDA LinkGeneric 01/2016
1	C-Reactive ProteinIBA 01/2016
1	chitotriosidaseIBA 09/2015
1	GlycolipidsIBA 03/2015
1	CeramidesIBA 02/2015
1	Chemotactic FactorsIBA 02/2015
1	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 02/2015
1	CytokinesIBA 02/2015
1	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 06/2014
1	Sirolimus (Rapamycin)FDA Link 06/2014
1	Glycogen Synthase (Synthase I)IBA 06/2014
1	MyostatinIBA 01/2013
1	FollistatinIBA 01/2013
1	Insulin-Like Growth Factor I (IGF-1)IBA 01/2013
1	Liver GlycogenIBA 11/2012
1	Drinking WaterIBA 02/2012
1	Glucosylceramidase (Glucocerebrosidase)IBA 06/2011
1	Mannose ReceptorIBA 06/2011
1	Polysaccharides (Glycans)IBA 06/2011
1	imiglucerase FDA Link 06/2011

Therapy/Procedure

23	Enzyme Replacement Therapy 01/2022 - 12/2002
12	Therapeutics 01/2020 - 12/2006
1	Contraindications 01/2020
1	Injections 02/2012