Bobby G Ng Selected Research

Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)

1/2021	A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
1/2019	SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
1/2019	Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation.
1/2019	ALG11-CDG syndrome: Expanding the phenotype.
12/2018	Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
1/2017	Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.
4/2014	Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.
3/2014	A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.
12/2013	Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.
4/2013	Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

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Bobby G Ng Research Topics

Disease

19	Congenital Disorders of Glycosylation 11/2022 - 07/2010
11	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2021 - 05/2012
5	Inborn Genetic Diseases (Disease, Hereditary) 01/2020 - 09/2011
3	Liver Diseases (Liver Disease) 01/2021 - 04/2014
2	Brain Diseases (Brain Disorder) 03/2022 - 11/2017
2	Microcephaly 01/2019 - 11/2013
1	Neutropenia 01/2021
1	Epilepsy (Aura) 11/2020
1	Portal Hypertension 11/2020
1	Spasm (Spasms) 11/2020
1	Cone-Rod Dystrophies 01/2020
1	Alacrima 12/2019
1	Intellectual Disability (Idiocy) 01/2019
1	Seizures (Absence Seizure) 01/2019
1	Fetal Growth Retardation (Intrauterine Growth Retardation) 01/2018
1	Nephrotic Syndrome (Syndrome, Nephrotic) 08/2016
1	Alcoholism (Alcohol Abuse) 01/2016
1	Nervous System Diseases (Neurological Disorders) 11/2015
1	NGLY1 deficiency 08/2015
1	Hyperammonemia 06/2015
1	Hypoglycemia (Reactive Hypoglycemia) 04/2014
1	Growth Disorders 04/2014
1	Blindness (Hysterical Blindness) 04/2014
1	Renal Insufficiency (Renal Failure) 12/2013
1	Hyperglycemia 12/2013
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 12/2013
1	Hepatomegaly 12/2013
1	Muscle Hypotonia (Hypotonia) 11/2013
1	Muscular Dystrophies (Muscular Dystrophy) 11/2013
1	Zunich neuroectodermal syndrome 04/2012
1	Vision Disorders (Hemeralopia) 11/2010
1	Glaucoma 11/2010
1	Coloboma (Colobomas) 11/2010
1	Cerebellar Ataxia (Dysmetria) 11/2010
1	Cataract (Cataracts) 11/2010
1	Optic Nerve Hypoplasia 11/2010
1	Synovitis 08/2003
1	Hyperplasia 08/2003

Drug/Important Bio-Agent (IBA)

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

Therapy/Procedure

2	Therapeutics 11/2022 - 11/2020
1	Intra-Articular Injections 08/2003