Hudson H Freeze Selected Research

Clobazam (HR 376)

11/2020

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

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Hudson H Freeze Research Topics

Disease

40	Congenital Disorders of Glycosylation 04/2024 - 03/2002
22	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 04/2024 - 03/2002
10	Neoplasms (Cancer) 01/2023 - 05/2008
7	Inborn Genetic Diseases (Disease, Hereditary) 01/2020 - 07/2006
6	Liver Diseases (Liver Disease) 01/2023 - 02/2006
6	Inflammation (Inflammations) 01/2021 - 10/2005
6	Protein-Losing Enteropathies (Protein-Losing Enteropathy) 02/2009 - 05/2005
5	Microcephaly 01/2019 - 07/2007
3	Brain Diseases (Brain Disorder) 11/2023 - 11/2017
3	Seizures (Absence Seizure) 01/2019 - 07/2007
3	Muscle Hypotonia (Hypotonia) 11/2013 - 01/2005
2	Alacrima 12/2019 - 10/2014
2	Fatty Liver 01/2018 - 04/2016
2	NGLY1 deficiency 01/2018 - 08/2015
2	Growth Disorders 01/2016 - 04/2014
2	Hypoglycemia (Reactive Hypoglycemia) 04/2014 - 06/2007
2	Muscular Dystrophies (Muscular Dystrophy) 11/2013 - 08/2003
2	Glioma (Gliomas) 06/2010 - 05/2008
2	Carcinogenesis 07/2009 - 10/2008
2	Colitis 10/2008 - 10/2005
2	Hypertension (High Blood Pressure) 01/2008 - 03/2006
2	Failure to Thrive 07/2007 - 01/2005
2	Crohn Disease (Crohn's Disease) 04/2006 - 10/2005
1	Rare Diseases (Rare Disease) 04/2024
1	Liver Failure 01/2023
1	Genomic Instability 01/2023
1	Chondrosarcoma 01/2022
1	Neutropenia 01/2021
1	Atherosclerosis 01/2021
1	Chronic Kidney Failure (Chronic Renal Failure) 01/2021
1	Spasm (Spasms) 11/2020
1	Epilepsy (Aura) 11/2020
1	Portal Hypertension 11/2020
1	Epstein-Barr Virus Infections 01/2020
1	Cone-Rod Dystrophies 01/2020
1	congenital Sucrase-isomaltase deficiency 01/2020
1	Intellectual Disability (Idiocy) 01/2019
1	Obesity 01/2018

Drug/Important Bio-Agent (IBA)

25	Proteins (Proteins, Gene)FDA Link 01/2023 - 12/2002
16	Polysaccharides (Glycans)IBA 01/2023 - 03/2002
12	Mannose (D-Mannose)IBA 01/2023 - 03/2006
12	Glycoproteins (Glycoprotein)IBA 01/2022 - 08/2003
8	LipidsIBA 01/2019 - 12/2002
8	Transferrin (beta 2 Transferrin)IBA 01/2017 - 05/2004
6	phosphomannomutaseIBA 01/2016 - 03/2002
6	Mannose-6-Phosphate Isomerase (Mannose 6 Phosphate Isomerase)IBA 04/2014 - 01/2003
5	EnzymesIBA 01/2023 - 01/2003
5	Blood Proteins (Serum Proteins)IBA 08/2016 - 05/2005
4	OligosaccharidesIBA 01/2018 - 12/2002
3	Congenital disorder of glycosylation type 1AIBA 04/2024 - 01/2016
3	FucoseIBA 01/2023 - 12/2015
3	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 12/2022 - 04/2012
3	GlycolipidsIBA 01/2022 - 01/2019
3	Transaminases (Aminotransferases)IBA 01/2020 - 10/2014
3	MonosaccharidesIBA 01/2020 - 01/2016
3	NucleotidesIBA 01/2020 - 09/2011
3	Glucose (Dextrose)FDA LinkGeneric 01/2018 - 03/2014
3	Heparan Sulfate Proteoglycans (Heparan Sulfate Proteoglycan)IBA 02/2009 - 05/2005
3	NF-kappa B (NF-kB)IBA 10/2008 - 10/2005
3	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 01/2008 - 05/2005
2	Biomarkers (Surrogate Marker)IBA 04/2024 - 02/2009
2	carbohydrate-deficient transferrinIBA 04/2024 - 01/2019
2	AcidsIBA 01/2021 - 01/2020
2	AntibodiesIBA 01/2021 - 11/2013
2	UDP-galactose translocatorIBA 01/2019 - 04/2013
2	signal sequence receptorIBA 01/2019 - 03/2014
2	GlycosyltransferasesIBA 01/2018 - 02/2015
2	Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine AmidaseIBA 01/2018 - 08/2015
2	SugarsIBA 11/2017 - 09/2011
2	Phosphates (Orthophosphate)IBA 01/2016 - 08/2003
2	Dystroglycans (Dystroglycan)IBA 11/2013 - 08/2003
2	CarbohydratesIBA 11/2013 - 10/2005
2	mannose-6-phosphateIBA 01/2013 - 11/2012
2	Heparitin Sulfate (Heparan Sulfate)IBA 03/2006 - 05/2005
2	TransferasesIBA 08/2003 - 03/2002
1	mannosyl(5)-N-acetyl(2)-glucoseIBA 04/2024
1	GlycopeptidesIBA 04/2024
1	UridineIBA 11/2023
1	OxysterolsIBA 01/2023
1	Cisplatin (Platino)FDA LinkGeneric 01/2023
1	Bile Acids and Salts (Bile Acids)IBA 01/2023
1	dolichyl-phosphate beta-D-mannosyltransferaseIBA 12/2022
1	glucosidase IIBA 07/2022
1	Uridine Monophosphate (UMP)IBA 03/2022
1	N-Acetylneuraminic Acid (Sialic Acid)IBA 01/2021
1	N-glycolylneuraminic acidIBA 01/2021
1	GlycogenIBA 01/2021
1	Prednisolone (Predate)FDA LinkGeneric 11/2020
1	Adrenocorticotropic Hormone (ACTH)FDA Link 11/2020
1	Clobazam (HR 376)IBA 11/2020
1	Felbamate (Felbatol)FDA Link 11/2020
1	MagnesiumIBA 01/2020
1	Sodium-Hydrogen ExchangersIBA 01/2020
1	Aquaporins (Water Channels)IBA 12/2019
1	Factor VIII (Coagulation Factor VIII)IBA 01/2019
1	von Willebrand FactorIBA 01/2019
1	fucokinaseIBA 12/2018
1	Alkaline PhosphataseIBA 10/2018
1	CholesterolIBA 10/2018

Therapy/Procedure

7	Therapeutics 01/2023 - 04/2008