Avraham Zeharia Selected Research

Nonsense Codon (Nonsense Mutation)

10/2013

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

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Avraham Zeharia Research Topics

Disease

3	Migraine Disorders (Migraine) 01/2019 - 02/2010
2	Liver Failure 01/2018 - 09/2009
2	Hypoglycemia (Reactive Hypoglycemia) 01/2018 - 01/2013
2	Rhabdomyolysis 12/2017 - 10/2008
2	Infantile Spasms (West Syndrome) 03/2012 - 01/2012
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 04/2022
1	Thrombophilia 01/2019
1	Lactic Acidosis 01/2018
1	Primary Hyperoxaluria (Oxaluria, Primary) 08/2014
1	Primary hyperoxaluria type 1 08/2014
1	Kidney Diseases (Kidney Disease) 08/2014
1	Kidney Calculi (Kidney Stone) 08/2014
1	Acidosis 02/2014
1	Due To LAD Deficiency Congenital Infantile Lactic Acidosis 02/2014
1	Congenital Disorders of Glycosylation 10/2013
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 10/2013
1	Esophageal Achalasia (Megaesophagus) 10/2013
1	Alacrima 10/2013
1	Fructose-1,6-Diphosphatase Deficiency (Fructose 1,6 Diphosphatase Deficiency) 01/2013
1	Hyperuricemia 01/2013
1	Epilepsy (Aura) 06/2012
1	Hepatocellular Carcinoma (Hepatoma) 01/2012
1	Fibrosis (Cirrhosis) 01/2012
1	Hypertriglyceridemia 01/2012
1	Fatty Liver 01/2012
1	Poland Syndrome 04/2010
1	Scoliosis 04/2010
1	Acute Liver Failure (Fulminant Hepatic Failure) 09/2009
1	Lymphadenitis (Adenitis) 10/2008
1	Myoglobinuria 10/2008
1	Muscular Diseases (Myopathy) 10/2008
1	Cholestasis 01/2007
1	Muscle Hypotonia (Hypotonia) 01/2007
1	2-Methylbutyryl-CoA Dehydrogenase Deficiency 03/2005
1	Tinea Capitis 04/2004
1	Serum Sickness 04/2004
1	Latent Tuberculosis 03/2003
1	autosomal dominant familial Periodic fever 01/2002

Drug/Important Bio-Agent (IBA)

3	EnzymesIBA 10/2013 - 03/2005
2	alpha-Fetoproteins (alpha-Fetoprotein)IBA 04/2022 - 01/2018
2	Adrenocorticotropic Hormone (ACTH)FDA Link 03/2012 - 01/2012
2	Fatty Acids (Saturated Fatty Acids)IBA 10/2008 - 01/2007
1	LipidsIBA 04/2022
1	Lipoprotein(a)IBA 01/2019
1	glycollate oxidaseIBA 08/2014
1	Calcium OxalateIBA 08/2014
1	Urea (Carbamide)FDA LinkGeneric 02/2014
1	CitrullineIBA 02/2014
1	Glutamine (L-Glutamine)FDA Link 02/2014
1	Biomarkers (Surrogate Marker)IBA 02/2014
1	Guanosine Diphosphate Mannose (GDP Mannose)IBA 10/2013
1	GlycolipidsIBA 10/2013
1	Glycoproteins (Glycoprotein)IBA 10/2013
1	Nonsense Codon (Nonsense Mutation)IBA 10/2013
1	Dystroglycans (Dystroglycan)IBA 10/2013
1	Guanosine Diphosphate (GDP)IBA 10/2013
1	Polysaccharides (Glycans)IBA 10/2013
1	mannose 1-phosphate guanylyltransferaseIBA 10/2013
1	Glucagon (Glukagon)FDA Link 01/2013
1	Alanine (L-Alanine)FDA Link 01/2013
1	Blood Glucose (Blood Sugar)IBA 01/2013
1	Growth Hormone (Somatotropin)IBA 01/2013
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2013
1	Propranolol (Inderal)FDA LinkGeneric 06/2012
1	Amitriptyline (Elavil)FDA LinkGeneric 06/2012
1	SteroidsIBA 03/2012
1	Adrenal Cortex Hormones (Corticosteroids)IBA 03/2012
1	Prednisone (Sone)FDA LinkGeneric 03/2012
1	Complementary DNA (cDNA)IBA 01/2012
1	Messenger RNA (mRNA)IBA 01/2012
1	Glycerolphosphate Dehydrogenase (Glycerol 3 Phosphate Dehydrogenase)IBA 01/2012
1	CholesterolIBA 01/2012
1	Triglycerides (Triacylglycerol)IBA 01/2012
1	GlucocorticoidsIBA 01/2012
1	SulfurIBA 09/2009
1	Mitochondrial DNA (mtDNA)IBA 09/2009
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 10/2008
1	CatalaseIBA 01/2007
1	Bile Acids and Salts (Bile Acids)IBA 01/2007
1	Isoleucine (L-Isoleucine)FDA Link 03/2005
1	2-ethylhydracrylic acidIBA 03/2005
1	2-methylbutyrylglycineIBA 03/2005
1	Griseofulvin (Grifulvin V)FDA LinkGeneric 04/2004
1	Isoniazid (Ftivazide)FDA LinkGeneric 03/2003
1	DNA (Deoxyribonucleic Acid)IBA 01/2002
1	Type I Tumor Necrosis Factor ReceptorsIBA 01/2002

Therapy/Procedure

2	Conservative Treatment 02/2010 - 10/2008
1	Precision Medicine 12/2017
1	Aftercare (After-Treatment) 03/2012
1	Braces 04/2010
1	Therapeutics 04/2004