HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Joannie Hui Selected Research

Multiple Carboxylase Deficiency (Deficiency, Multiple Carboxylase)

8/2014Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
8/2012The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
3/2003A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown:


Joannie Hui Research Topics

Disease

3Hepatolenticular Degeneration (Wilson's Disease)
06/2020 - 01/2008
3Glycogen Storage Disease (Glycogenosis)
08/2014 - 06/2003
3Multiple Carboxylase Deficiency (Deficiency, Multiple Carboxylase)
08/2014 - 03/2003
2Mitochondrial Diseases (Mitochondrial Disease)
10/2020 - 01/2019
2Multiple Acyl Coenzyme A Dehydrogenase Deficiency
08/2014 - 06/2009
2Holocarboxylase Synthetase Deficiency
08/2012 - 03/2003
1Kearns-Sayre Syndrome
01/2022
1Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
01/2022
1Retinitis Pigmentosa (Pigmentary Retinopathy)
01/2022
1Intellectual Disability (Idiocy)
01/2019
1Hypersensitivity (Allergy)
10/2017
1Alcoholism (Alcohol Abuse)
10/2017
1Neoplasms (Cancer)
10/2017
16-pyruvoyl-tetrahydropterin synthase deficiency
08/2014
1Adult-onset citrullinemia type 2
08/2014
1Phenylketonurias (Phenylketonuria)
08/2014
1Metabolic Diseases (Metabolic Disease)
07/2007
1Mucolipidoses (Sialidosis)
04/2007
1Galactorrhea
07/2006
1Hemochromatosis (Bronze Diabetes)
02/2006
1Systemic Lupus Erythematosus (Libman-Sacks Disease)
05/2004
1Hepatomegaly
06/2003
1Glycogen Storage Disease Type III (Cori's Disease)
01/2002

Drug/Important Bio-Agent (IBA)

3EnzymesIBA
02/2011 - 05/2004
2Mitochondrial DNA (mtDNA)IBA
01/2022 - 10/2020
2CopperIBA
06/2020 - 01/2008
2Ligases (Synthetase)IBA
02/2006 - 03/2003
1RNA Helicases (RNA Helicase)IBA
01/2019
1coenzyme Q10 (CoQ10)IBA
01/2019
1AcetaldehydeIBA
10/2017
1Disulfiram (Antabuse)FDA Link
10/2017
1Poly(ADP-ribose) Polymerase InhibitorsIBA
10/2017
1Poly(ADP-ribose) Polymerases (Poly ADP Ribose Polymerase)IBA
10/2017
1sapropterin (tetrahydrobiopterin)FDA Link
08/2014
1Systemic carnitine deficiencyIBA
08/2014
1Carnitine-Acylcarnitine Translocase DeficiencyIBA
08/2014
1Alanine Transaminase (SGPT)IBA
11/2013
1Biotin (Vitamin H)FDA Link
08/2012
1Phosphorylase Kinase (Phosphorylase Kinase, Glycogen)IBA
02/2011
1Amino AcidsFDA Link
06/2009
1Riboflavin (Vitamin B2)FDA LinkGeneric
06/2009
1Fatty Acids (Saturated Fatty Acids)IBA
06/2009
1Electron-Transferring Flavoproteins (Electron Transfer Flavoprotein)IBA
06/2009
1Choline (Choline Chloride)IBA
06/2009
1Oxidoreductases (Dehydrogenase)IBA
06/2009
1Proteins (Proteins, Gene)FDA Link
07/2007
1Uridine Diphosphate (UDP)IBA
04/2007
1AcetylglucosamineIBA
04/2007
1UDP- N- acetylglucosamine- lysosomal- enzyme- N- acetylglucosaminephosphotransferaseIBA
04/2007
1Neurotransmitter Agents (Neurotransmitter)IBA
07/2006
1Citrate (si)-Synthase (Synthase, Citrate)IBA
02/2006
1MolybdenumIBA
02/2006
1pantothenate kinaseIBA
02/2006
1Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA
02/2006
1Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA
02/2006
1Antinuclear AntibodiesIBA
05/2004
1DNA (Deoxyribonucleic Acid)IBA
05/2004
1ImmunosorbentsIBA
05/2004
1AntibodiesIBA
05/2004
1Hypoglycemic Agents (Hypoglycemics)IBA
06/2003
1Glycogen Phosphorylase (Phosphorylase, Glycogen)IBA
06/2003
1BiotinidaseIBA
03/2003
1Glycogen Debranching Enzyme System (Glycogen Debranching Enzyme)IBA
01/2002