Neji Tebib Selected Research

Glycogen Storage Disease Type III (Cori's Disease)

9/2018	A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients.
1/2016	History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation.
7/2013	Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.
11/2012	High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia.
3/2012	Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.

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Neji Tebib Research Topics

Disease

5	Glycogen Storage Disease Type III (Cori's Disease) 09/2018 - 03/2012
3	Intellectual Disability (Idiocy) 04/2016 - 11/2011
3	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 01/2016 - 01/2013
2	Fucosidosis 12/2021 - 01/2021
2	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2021 - 05/2018
2	Phenylketonurias (Phenylketonuria) 07/2020 - 11/2011
2	Hypoglycemia (Reactive Hypoglycemia) 01/2016 - 04/2011
2	Hyperammonemia 01/2016 - 01/2015
2	Lysinuric Protein Intolerance 01/2015 - 01/2011
2	Tyrosinemias (Tyrosinemia) 01/2015 - 10/2013
1	Photophobia (Light Sensitivity) 05/2022
1	Cystinosis 05/2022
1	Cystic Fibrosis (Mucoviscidosis) 02/2021
1	Disease Progression 01/2021
1	alpha-Mannosidosis 01/2021
1	Cardiomyopathies (Cardiomyopathy) 09/2018
1	Hypertriglyceridemia 09/2018
1	Mucopolysaccharidosis I (Hurler Syndrome) 05/2018
1	Cockayne Syndrome (Syndrome, Cockayne) 05/2017
1	Kidney Diseases (Kidney Disease) 05/2017
1	Sclerosis 05/2017
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2016
1	Liver Failure 01/2016
1	Liver Diseases (Liver Disease) 01/2016
1	Autistic Disorder (Autism) 01/2016
1	Lactic Acidosis 01/2016
1	Addison Disease (Addison's Disease) 01/2013
1	Demyelinating Diseases (Demyelinating Disease) 01/2013
1	Hyperinsulinism (Hyperinsulinemia) 04/2011
1	Diabetes Mellitus 04/2011
1	Congenital Hyperinsulinism 04/2011

Drug/Important Bio-Agent (IBA)

5	EnzymesIBA 12/2021 - 01/2016
3	GlycogenIBA 09/2018 - 03/2012
3	Glycogen Debranching Enzyme System (Glycogen Debranching Enzyme)IBA 07/2013 - 03/2012
2	Phenylalanine (L-Phenylalanine)FDA Link 07/2020 - 11/2011
2	Proteins (Proteins, Gene)FDA Link 09/2018 - 01/2016
2	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2016 - 11/2011
2	Member 1 Subfamily D ATP Binding Cassette TransporterIBA 08/2015 - 01/2013
2	Amino Acids FDA Link 01/2015 - 01/2011
1	Cystine (L-Cystine)IBA 05/2022
1	Cystic Fibrosis Transmembrane Conductance Regulator (Protein, CFTR)IBA 02/2021
1	Chloride Channels (Chloride Channel)IBA 02/2021
1	alpha-Mannosidase (LAMAN)IBA 01/2021
1	FucoseIBA 01/2021
1	alpha-L-Fucosidase (Fucosidase)IBA 01/2021
1	GlycolipidsIBA 01/2021
1	Glycoproteins (Glycoprotein)IBA 01/2021
1	Starch (Cornstarch)IBA 09/2018
1	Iduronidase (alpha-L-Iduronidase)IBA 05/2018
1	NucleotidesIBA 05/2017
1	GlypicansIBA 04/2016
1	ATP-Binding Cassette Transporters (ABC Transporters)IBA 01/2016
1	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 01/2016
1	Nonsense Codon (Nonsense Mutation)IBA 01/2016
1	Membrane Proteins (Integral Membrane Proteins)IBA 08/2015
1	fumarylacetoacetase (fumarylacetoacetate hydrolase)IBA 01/2015
1	Diamino Amino AcidsIBA 01/2015
1	Orotic AcidIBA 01/2015
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2013
1	Adenosine Triphosphate (ATP)IBA 01/2013
1	amylo-1,6-glucosidaseIBA 03/2012
1	DextrinsIBA 03/2012
1	Glucagon (Glukagon)FDA Link 04/2011
1	Insulin (Novolin)FDA Link 04/2011
1	Leucine (L-Leucine)FDA Link 04/2011
1	Diazoxide (Hyperstat)FDA Link 04/2011
1	Growth Hormone (Somatotropin)IBA 04/2011
1	Glucose (Dextrose)FDA LinkGeneric 04/2011
1	OrnithineIBA 01/2011
1	arginyllysineIBA 01/2011

Therapy/Procedure

1	Enzyme Replacement Therapy 01/2021
1	Protein-Restricted Diet (Diet, Protein Restricted) 10/2013
1	Pancreatectomy 04/2011
1	Therapeutics 04/2011