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Bobby G Ng Selected Research

Prednisolone (Predate)

11/2020Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.

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Bobby G Ng Research Topics

Disease

23Congenital Disorders of Glycosylation
01/2023 - 07/2010
11Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
01/2021 - 05/2012
5Inborn Genetic Diseases (Disease, Hereditary)
01/2020 - 09/2011
4Liver Diseases (Liver Disease)
01/2023 - 04/2014
3Brain Diseases (Brain Disorder)
11/2023 - 11/2017
2Microcephaly
01/2019 - 11/2013
1Liver Failure
01/2023
1Chondrosarcoma
01/2022
1Neutropenia
01/2021
1Epilepsy (Aura)
11/2020
1Spasm (Spasms)
11/2020
1Portal Hypertension
11/2020
1Cone-Rod Dystrophies
01/2020
1Alacrima
12/2019
1Seizures (Absence Seizure)
01/2019
1Intellectual Disability (Idiocy)
01/2019
1Fetal Growth Retardation (Intrauterine Growth Retardation)
01/2018
1Nephrotic Syndrome (Syndrome, Nephrotic)
08/2016
1Alcoholism (Alcohol Abuse)
01/2016
1Nervous System Diseases (Neurological Disorders)
11/2015
1NGLY1 deficiency
08/2015
1Hyperammonemia
06/2015
1Growth Disorders
04/2014
1Blindness (Hysterical Blindness)
04/2014
1Hypoglycemia (Reactive Hypoglycemia)
04/2014
1Hyperglycemia
12/2013
1Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
12/2013
1Renal Insufficiency (Renal Failure)
12/2013
1Hepatomegaly
12/2013
1Muscle Hypotonia (Hypotonia)
11/2013
1Muscular Dystrophies (Muscular Dystrophy)
11/2013
1Zunich neuroectodermal syndrome
04/2012
1Optic Nerve Hypoplasia
11/2010
1Coloboma (Colobomas)
11/2010
1Cerebellar Ataxia (Dysmetria)
11/2010
1Cataract (Cataracts)
11/2010
1Vision Disorders (Hemeralopia)
11/2010

Drug/Important Bio-Agent (IBA)

11Proteins (Proteins, Gene)FDA Link
01/2023 - 07/2010
6LipidsIBA
01/2019 - 12/2013
5Glycoproteins (Glycoprotein)IBA
01/2022 - 02/2014
4Polysaccharides (Glycans)IBA
12/2022 - 01/2016
3Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA
12/2022 - 04/2012
3GlycolipidsIBA
01/2022 - 01/2019
3Mannose (D-Mannose)IBA
11/2020 - 04/2014
3Transferrin (beta 2 Transferrin)IBA
01/2017 - 12/2013
2FucoseIBA
01/2023 - 01/2018
2Transaminases (Aminotransferases)IBA
01/2020 - 10/2018
2MonosaccharidesIBA
01/2020 - 01/2018
2UDP-galactose translocatorIBA
01/2019 - 04/2013
2signal sequence receptorIBA
01/2019 - 03/2014
2NucleotidesIBA
11/2017 - 09/2011
2SugarsIBA
11/2017 - 09/2011
1UridineIBA
11/2023
1Bile Acids and Salts (Bile Acids)IBA
01/2023
1OxysterolsIBA
01/2023
1dolichyl-phosphate beta-D-mannosyltransferaseIBA
12/2022
1glucosidase IIBA
07/2022
1Uridine Monophosphate (UMP)IBA
03/2022
1GlycogenIBA
01/2021
1Clobazam (HR 376)IBA
11/2020
1Felbamate (Felbatol)FDA Link
11/2020
1Adrenocorticotropic Hormone (ACTH)FDA Link
11/2020
1Prednisolone (Predate)FDA LinkGeneric
11/2020
1Aquaporins (Water Channels)IBA
12/2019
1von Willebrand FactorIBA
01/2019
1Factor VIII (Coagulation Factor VIII)IBA
01/2019
1carbohydrate-deficient transferrinIBA
01/2019
1fucokinaseIBA
12/2018
1Alkaline PhosphataseIBA
10/2018
1CholesterolIBA
10/2018
1FucosyltransferasesIBA
01/2018
1Cytidine Monophosphate N-Acetylneuraminic AcidIBA
11/2017
1Membrane Proteins (Integral Membrane Proteins)IBA
01/2017
1Blood Proteins (Serum Proteins)IBA
08/2016
1Phosphates (Orthophosphate)IBA
01/2016
1OligosaccharidesIBA
01/2016
1IsomerasesIBA
01/2016
1Congenital disorder of glycosylation type 1AIBA
01/2016
1phosphomannomutaseIBA
01/2016
1AsparagineIBA
01/2016
1Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine AmidaseIBA
08/2015
1Carbamyl Phosphate (Carbamoyl Phosphate)IBA
06/2015
1Urea (Carbamide)FDA LinkGeneric
06/2015
1Ligases (Synthetase)IBA
06/2015
1GlycosphingolipidsIBA
01/2015
1Mannose-6-Phosphate Isomerase (Mannose 6 Phosphate Isomerase)IBA
04/2014
1Insulin (Novolin)FDA Link
12/2013
1dolichol kinaseIBA
12/2013
1Protein Isoforms (Isoforms)IBA
11/2013
1dolichyl-diphosphooligosaccharide - protein glycotransferase (oligosaccharyltransferase)IBA
11/2013
1Creatine Kinase (Creatine Phosphokinase)IBA
11/2013
1CarbohydratesIBA
11/2013
1AntibodiesIBA
11/2013
1Dystroglycans (Dystroglycan)IBA
11/2013
1Cell Adhesion Molecule-1IBA
05/2012
1GlycoconjugatesIBA
05/2012
1Golgi Matrix ProteinsIBA
09/2011
1EnzymesIBA
09/2011
1SteroidsIBA
11/2010

Therapy/Procedure

3Therapeutics
01/2023 - 11/2020