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Alan H Beggs Selected Research

2-methyl-3-hydroxybutyric acid

1/2018Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

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Alan H Beggs Research Topics

Disease

28Congenital Structural Myopathies (Centronuclear Myopathy)
01/2022 - 11/2005
23Muscular Diseases (Myopathy)
01/2022 - 09/2003
23Nemaline Myopathies (Nemaline Myopathy)
01/2021 - 03/2003
12Muscle Weakness
01/2022 - 07/2009
10Diamond-Blackfan Anemia (Anemia, Diamond Blackfan)
09/2019 - 09/2006
7Respiratory Insufficiency (Respiratory Failure)
01/2022 - 02/2011
6Muscular Dystrophies (Muscular Dystrophy)
01/2019 - 05/2006
5Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
11/2016 - 11/2002
5Neuromuscular Diseases (Neuromuscular Disease)
07/2014 - 06/2009
3Inborn Genetic Diseases (Disease, Hereditary)
10/2019 - 03/2014
3Hypertrophy
01/2016 - 02/2011
3Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
06/2013 - 11/2009
2Anemia
09/2019 - 12/2006
2Atrophy
01/2015 - 06/2009
2Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
08/2014 - 07/2014
2Sudden Infant Death (SID)
12/2009 - 11/2006
2Inclusion Body Myositis
06/2009 - 10/2007
2Myositis (Idiopathic Inflammatory Myopathies)
06/2009 - 11/2007
2Polymyositis
06/2009 - 11/2007
2Dermatomyositis (Dermatopolymyositis)
11/2007 - 10/2007
2Cardiac Arrhythmias (Arrythmia)
06/2005 - 08/2002
1Autistic Disorder (Autism)
01/2021
1Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder)
01/2021
1Intellectual Disability (Idiocy)
01/2021
1Disease Progression
11/2020
1Rhabdomyolysis
01/2020
1Myofibrillar Myopathy
01/2020
1Infections
01/2020
1Lung Diseases (Lung Disease)
01/2020
1Minicore Myopathy with External Ophthalmoplegia
01/2019
1non-verbal learning disabilities
11/2018
1Schizophrenia (Dementia Praecox)
11/2018
1Glutaric Acidemia I
01/2018
1Ketosis
01/2018
1Mitochondrial Diseases (Mitochondrial Disease)
01/2018
1Stroke (Strokes)
01/2018
1Acidosis
01/2018
1Hematologic Diseases (Blood Diseases)
01/2017
1Seizures (Absence Seizure)
11/2016
1Epilepsy (Aura)
11/2016
1Psychotic Disorders (Schizoaffective Disorder)
05/2016
1Autism Spectrum Disorder
05/2016
1Sarcoma (Soft Tissue Sarcoma)
01/2016

Drug/Important Bio-Agent (IBA)

24Proteins (Proteins, Gene)FDA Link
08/2021 - 10/2002
18myotubularinIBA
08/2021 - 07/2008
10nebulinIBA
01/2015 - 09/2004
6Ribosomal Proteins (Ribosomal Protein)IBA
09/2019 - 09/2006
6DystrophinIBA
11/2016 - 11/2002
6LipidsIBA
08/2014 - 02/2011
6Phosphoric Monoester Hydrolases (Phosphatases)IBA
08/2014 - 02/2011
4Cofilin 2IBA
01/2020 - 01/2007
4DNA (Deoxyribonucleic Acid)IBA
01/2019 - 10/2009
4EnzymesIBA
02/2016 - 04/2003
3Selenoproteins (Selenoprotein)IBA
11/2020 - 04/2013
3CalciumIBA
01/2019 - 06/2013
3TropomyosinIBA
07/2014 - 02/2010
3Actins (F Actin)IBA
09/2004 - 09/2003
2TroponinIBA
01/2021 - 06/2013
2Pharmaceutical PreparationsIBA
01/2019 - 01/2017
2DesminIBA
01/2017 - 01/2011
2RNA (Ribonucleic Acid)IBA
01/2017 - 11/2002
2Activins (Activin)IBA
01/2016 - 06/2014
2Protein Isoforms (Isoforms)IBA
07/2014 - 03/2003
2activin receptor type II-BIBA
06/2014 - 02/2011
2ConnectinIBA
10/2013 - 10/2002
2Dynamin IIIBA
06/2012 - 11/2005
2Serotonin (5 Hydroxytryptamine)IBA
12/2009 - 11/2006
1Valproic Acid (Depakote)FDA LinkGeneric
01/2022
1Transcription Factors (Transcription Factor)IBA
01/2021
1CK-2017357IBA
01/2021
1Dantrolene (Dantrium)FDA LinkGeneric
01/2020
1Troponin T (Troponin T1)IBA
01/2020
1OligonucleotidesIBA
10/2019
1Doxycycline (Periostat)FDA LinkGeneric
09/2019
1Small Interfering RNA (siRNA)IBA
09/2019
1Drinking WaterIBA
09/2019
1Tetracycline (Achromycin)FDA LinkGeneric
09/2019
1MethyltransferasesIBA
01/2019
1Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
01/2019
1Glycoproteins (Glycoprotein)IBA
01/2019
1NucleotidesIBA
11/2018
1Isoleucine (L-Isoleucine)FDA Link
01/2018
1KetonesIBA
01/2018
12-methyl-3-hydroxybutyric acidIBA
01/2018
12-methylacetoacetic acidIBA
01/2018
1Beta ketothiolase deficiencyIBA
01/2018
1tiglylglycineIBA
01/2018
1AcidsIBA
01/2018
1Acetyl-CoA C-Acyltransferase (beta Ketothiolase)IBA
01/2018
1Anticonvulsants (Antiepileptic Drugs)IBA
11/2016
1gamma-Aminobutyric Acid (GABA)IBA
11/2016
1Proteasome Endopeptidase Complex (Proteasome)IBA
05/2016
1UbiquitinIBA
05/2016
1insulin receptor-related receptor (IRR)IBA
01/2016
1MyostatinIBA
01/2016

Therapy/Procedure

13Therapeutics
01/2022 - 05/2011
4Artificial Respiration (Mechanical Ventilation)
01/2022 - 02/2011
2Mechanical Ventilators (Ventilator)
01/2022 - 01/2020
1Gastrostomy
01/2022
1Ketogenic Diet
11/2016