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Yonglan Huang Selected Research

Dystonic Disorders (Writer's Cramp)

1/2017Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis.

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Yonglan Huang Research Topics

Disease

3GM1 Gangliosidosis (Gangliosidosis GM1)
01/2022 - 12/2018
3Gaucher Disease (Gaucher's Disease)
01/2021 - 01/2018
3Lysosomal Storage Diseases (Lysosomal Storage Disease)
01/2021 - 06/2014
3Glycogen Storage Disease Type II (Pompe's Disease)
12/2020 - 01/2018
2Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal)
11/2019 - 12/2014
2Mucopolysaccharidoses
01/2018 - 12/2013
2Sandhoff Disease (Sandhoff's Disease)
01/2016 - 04/2014
1Lactic Acidosis
12/2022
1Hepatomegaly
12/2022
1Jaundice (Icterus)
12/2022
1Liver Diseases (Liver Disease)
03/2022
1Hepatolenticular Degeneration (Wilson's Disease)
03/2022
1Maple Syrup Urine Disease
08/2021
1Phenylketonurias (Phenylketonuria)
08/2021
1Methylmalonic acidemia
08/2021
1Thrombocytopenia (Thrombopenia)
07/2020
1Splenomegaly
07/2020
1Birth Weight (Birth Weights)
11/2019
1Hypophosphatasia
11/2019
1Mucopolysaccharidosis II (Hunter Syndrome)
04/2019
1Xanthomatosis (Xanthoma)
03/2019
1Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)
03/2019
1Sitosterolemia
03/2019
1Metabolic Diseases (Metabolic Disease)
01/2019
1B BH4-Deficient Hyperphenylalaninemia
01/2019
1Fucosidosis
01/2017
1Dopa-responsive Dystonia
01/2017
1Dystonic Disorders (Writer's Cramp)
01/2017
1Parkinsonian Disorders (Parkinsonism)
01/2017
1Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
12/2015
1Cysts
12/2014
1Virilism (Virilization)
12/2014
1Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy)
06/2014
1Huntington Disease (Huntington's Disease)
01/2014
1Coffin-Lowry Syndrome (Syndrome, Coffin-Lowry)
01/2014
1Cognitive Dysfunction
01/2014
1Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi)
01/2014
1Alzheimer Disease (Alzheimer's Disease)
01/2014
1Mucopolysaccharidosis IV (Morquio Syndrome)
12/2013

Drug/Important Bio-Agent (IBA)

6EnzymesIBA
01/2022 - 04/2014
4AcidsIBA
08/2021 - 01/2018
3GlucosidasesIBA
01/2021 - 01/2018
2GalactosidasesIBA
01/2021 - 12/2018
2Dihydroxyphenylalanine (Dopa)IBA
01/2019 - 01/2017
1Transaminases (Aminotransferases)IBA
12/2022
1Starch (Cornstarch)IBA
12/2022
1Ceruloplasmin (Ferroxidase)IBA
03/2022
1G(M1) GangliosideIBA
01/2022
1beta-Galactosidase (Lactaid)IBA
01/2022
1Systemic carnitine deficiencyIBA
08/2021
1Carnitine-Acylcarnitine Translocase DeficiencyIBA
08/2021
1sphingosyl beta-glucosideIBA
01/2021
1Glucosylceramides (Glucocerebrosides)IBA
01/2021
1alpha-Glucosidases (Acid Maltase)IBA
12/2020
1Glucosylceramidase (Glucocerebrosidase)IBA
07/2020
117-alpha-Hydroxyprogesterone (17 Hydroxyprogesterone)IBA
11/2019
1N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA
11/2019
1Alkaline PhosphataseIBA
11/2019
1Cholestyramine Resin (Questran)FDA LinkGeneric
03/2019
1CholesterolIBA
03/2019
1Phytosterols (Plant Sterols)IBA
03/2019
1GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA
01/2019
1sapropterin (tetrahydrobiopterin)FDA Link
01/2019
1Neurotransmitter Agents (Neurotransmitter)IBA
01/2019
1Nitric Oxide (Nitrogen Monoxide)FDA Link
01/2019
1Phenylalanine (L-Phenylalanine)FDA Link
01/2019
1Lysergic Acid Diethylamide (LSD)IBA
01/2018
1Levodopa (L Dopa)FDA LinkGeneric
01/2017
1Hexosaminidases (Hexosaminidase)IBA
01/2016
1SphingolipidsIBA
01/2016
13 beta-hydroxysteroid dehydrogenase type IIIBA
12/2014
1Hydroxysteroid DehydrogenasesIBA
12/2014
1Oxidoreductases (Dehydrogenase)IBA
12/2014
1SaltsIBA
12/2014
1N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA
06/2014
1Dermatan SulfateIBA
06/2014
1Chondroitin Sulfates (Chondroitin Sulfate)IBA
06/2014
1Hexosaminidase A (Hex A)IBA
04/2014
1Adenosine Monophosphate (AMP)IBA
01/2014
1Cyclic AMP Response Element-Binding Protein (Cyclic AMP-Responsive DNA-Binding Protein)IBA
01/2014
1SulfatasesIBA
12/2013

Therapy/Procedure

5Therapeutics
12/2022 - 01/2017
1Transplantation
01/2017
1Hematopoietic Stem Cell Transplantation
12/2015