Gerard T Berry Selected Research

UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase)

5/2012	Galactosemia: when is it a newborn screening emergency?
3/2012	The adult galactosemic phenotype.
4/2011	Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?
5/2010	Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry.
1/2008	Galactosemia and amenorrhea in the adolescent.
6/2004	Extended [13C]galactose oxidation studies in patients with galactosemia.

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Gerard T Berry Research Topics

Disease

26	Galactosemias (Galactosemia) 09/2021 - 01/2004
8	Inborn Genetic Diseases (Disease, Hereditary) 11/2021 - 01/2015
8	Inborn Errors Metabolism (Inborn Errors of Metabolism) 11/2020 - 02/2017
5	Hyperammonemia 06/2021 - 05/2007
4	Chronic Kidney Failure (Chronic Renal Failure) 03/2022 - 08/2013
4	Intellectual Disability (Idiocy) 11/2021 - 12/2018
4	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021 - 02/2015
4	Mitochondrial Diseases (Mitochondrial Disease) 01/2018 - 05/2013
4	Seizures (Absence Seizure) 01/2013 - 06/2008
3	Dystonia (Limb Dystonia) 11/2021 - 01/2018
3	Inborn Urea Cycle Disorders 01/2019 - 05/2007
3	Methylmalonic acidemia 12/2018 - 08/2013
3	Ketosis 01/2018 - 08/2006
3	Bipolar Disorder (Manic Depressive Psychosis) 01/2014 - 08/2006
2	Acidosis 11/2021 - 01/2018
2	Renal Insufficiency (Renal Failure) 11/2021 - 08/2006
2	Neurologic Manifestations (Neurological Manifestations) 11/2021 - 01/2018
2	Movement Disorders (Movement Disorder) 11/2021 - 01/2018
2	Cataract (Cataracts) 05/2021 - 01/2021
2	Brain Diseases (Brain Disorder) 01/2021 - 07/2019
2	Transaldolase Deficiency 09/2020 - 01/2017
2	Cardiomyopathies (Cardiomyopathy) 07/2020 - 01/2019
2	Congenital Disorders of Glycosylation 01/2020 - 01/2016
2	Lactic Acidosis 07/2019 - 01/2017
2	Muscle Hypotonia (Hypotonia) 07/2019 - 02/2008
2	Pyruvate Dehydrogenase Complex Deficiency Disease 07/2019 - 08/2003
2	Primary Ovarian Insufficiency 01/2019 - 01/2008
2	Hypoglycemia (Reactive Hypoglycemia) 01/2019 - 01/2002
2	Infertility (Sterility) 01/2018 - 09/2013
2	Edema (Dropsy) 01/2018 - 06/2003
2	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2018 - 01/2018
2	Maple Syrup Urine Disease 09/2015 - 06/2003
2	Phenylketonurias (Phenylketonuria) 01/2014 - 01/2008
2	Brain Hypoxia (Cerebral Hypoxia) 09/2013 - 01/2013
2	Central Sleep Apnea (Central Sleep Apnea Syndrome) 09/2008 - 05/2003
2	Fanconi Syndrome (Syndrome, Fanconi) 12/2005 - 01/2002
1	Floating-harbor syndrome 01/2022
1	Neurodevelopmental Disorders 01/2022
1	Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome) 11/2021
1	Autonomic Nervous System Diseases (Dysautonomia) 11/2021
1	Hyperthermia 11/2021
1	Leukocytosis (Pleocytosis) 11/2021
1	Hypernatremia 11/2021
1	Self Mutilation 11/2021
1	Fever (Fevers) 11/2021
1	Neuroleptic Malignant Syndrome 11/2021
1	Muscle Spasticity (Spastic) 05/2021
1	Hemorrhage 01/2021
1	Optic Nerve Diseases (Optic Neuropathy) 01/2021
1	Optic Atrophy 01/2021
1	Disease Susceptibility (Diathesis) 01/2021
1	Malnutrition (Nutritional Deficiencies) 11/2020
1	Infections 11/2020

Drug/Important Bio-Agent (IBA)

22	EnzymesIBA 09/2021 - 01/2006
18	Galactose (Galactopyranose)FDA LinkGeneric 09/2021 - 01/2002
7	galactose-1-phosphateIBA 09/2021 - 01/2008
6	Proteins (Proteins, Gene)FDA Link 01/2022 - 04/2011
6	Inositol (Myoinositol)IBA 06/2021 - 05/2003
6	LithiumIBA 01/2014 - 05/2004
6	UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase)IBA 05/2012 - 06/2004
5	AmmoniaIBA 11/2020 - 12/2012
4	Biomarkers (Surrogate Marker)IBA 01/2020 - 08/2013
3	Pyruvic Acid (Pyruvate)IBA 01/2021 - 08/2003
3	Lactic Acid (Lactate)FDA LinkGeneric 01/2021 - 06/2003
3	Lactose FDA LinkGeneric 01/2018 - 05/2012
3	LipidsIBA 01/2016 - 02/2008
3	Methylmalonyl-CoA MutaseIBA 11/2014 - 08/2006
3	Uridine Diphosphate Galactose (UDP Galactose)IBA 05/2014 - 01/2006
2	Glutamine (L-Glutamine)FDA Link 06/2021 - 01/2017
2	AntioxidantsIBA 01/2020 - 08/2013
2	OligosaccharidesIBA 01/2020 - 01/2018
2	GalactokinaseIBA 01/2020 - 01/2011
2	Glycoproteins (Glycoprotein)IBA 01/2020 - 08/2012
2	Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA 07/2019 - 01/2017
2	Fatty Acids (Saturated Fatty Acids)IBA 01/2019 - 11/2002
2	Ammonium CompoundsIBA 01/2019 - 05/2007
2	Arginine (L-Arginine)FDA Link 11/2018 - 05/2007
2	Isoleucine (L-Isoleucine)FDA Link 01/2018 - 09/2015
2	Mitochondrial DNA (mtDNA)IBA 01/2017 - 05/2013
2	phenylacetic acid (phenylacetate)FDA Link 01/2017 - 05/2007
2	Sodium Benzoate FDA Link 01/2017 - 05/2007
2	Messenger RNA (mRNA)IBA 04/2011 - 05/2003
2	Pilocarpine (Ocusert)FDA LinkGeneric 10/2009 - 06/2008
2	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 12/2005 - 01/2002
1	Congenital disorder of glycosylation type 1AIBA 03/2022
1	Adenosine Triphosphatases (ATPase)IBA 01/2022
1	Uric Acid (Urate)IBA 11/2021
1	purineIBA 11/2021
1	Neurotransmitter Agents (Neurotransmitter)IBA 11/2021
1	Phosphotransferases (Kinase)IBA 11/2021
1	Dopamine (Intropin)FDA LinkGeneric 11/2021
1	CreatinineIBA 11/2021
1	Transaminases (Aminotransferases)IBA 01/2021
1	IonsIBA 01/2021
1	UreaseIBA 11/2020
1	Urea (Carbamide)FDA LinkGeneric 11/2020

Therapy/Procedure

12	Therapeutics 01/2020 - 01/2002
3	Diet Therapy (Therapy, Diet) 09/2021 - 11/2012
3	Liver Transplantation 07/2020 - 08/2006
1	Speech Therapy (Therapy, Speech) 09/2021