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Marjan Huizing Selected Research

UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase

8/2014Mutation update for GNE gene variants associated with GNE myopathy.

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Marjan Huizing Research Topics

Disease

15Muscular Diseases (Myopathy)
11/2021 - 11/2011
8Nonaka type Distal myopathy
11/2011 - 03/2004
7Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome)
08/2012 - 02/2002
5Pulmonary Fibrosis (Fibrosing Alveolitis)
05/2020 - 04/2006
5Sialic Acid Storage Disease (Salla Disease)
01/2016 - 07/2003
3Hemorrhage
05/2020 - 01/2013
3Muscle Weakness
02/2020 - 03/2004
3Disease Progression
11/2018 - 07/2003
3Optic Atrophy
01/2014 - 06/2010
3Oculocutaneous Albinism (Albinism, Yellow Mutant)
06/2013 - 02/2002
3Inflammation (Inflammations)
12/2009 - 06/2009
2Ataxia (Dyssynergia)
11/2021 - 08/2010
2Albinism
01/2020 - 06/2011
2Neurodegenerative Diseases (Neurodegenerative Disease)
01/2017 - 01/2016
2Intellectual Disability (Idiocy)
06/2015 - 06/2009
2Hypopigmentation (Hypomelanosis)
10/2011 - 09/2007
2Smith-Magenis Syndrome
01/2011 - 07/2009
2Costeff optic atrophy syndrome
08/2010 - 06/2010
2Alkaptonuria
12/2009 - 12/2002
2Ochronosis
12/2009 - 12/2002
1Atrophy
02/2020
1Disease Susceptibility (Diathesis)
01/2020
1Agenesis of Cerebellar Vermis
01/2017
1Neoplasms (Cancer)
01/2016
1Cholangiocarcinoma
01/2016
1Seizures (Absence Seizure)
06/2015
1Congenital Disorders of Glycosylation
06/2015
1Epilepsy (Aura)
06/2015
1Hearing Loss (Hearing Impairment)
06/2015
1Muscle Hypotonia (Hypotonia)
06/2015
1Idiopathic Pulmonary Fibrosis
03/2014
1Pathologic Nystagmus
01/2014
1Inborn Genetic Diseases (Disease, Hereditary)
06/2013
1Hypercalcemia (Milk Alkali Syndrome)
04/2013
1Nephrocalcinosis
04/2013
1Hypercalciuria
04/2013
1Nephrolithiasis
04/2013
1Undiagnosed Diseases
04/2013
1Albuminuria
04/2012
1Hyponatremia
11/2011
1Hypotension (Low Blood Pressure)
11/2011
1Tachycardia (Tachyarrhythmias)
11/2011
1Myalgia
11/2011
1Fever (Fevers)
11/2011
1Combined Malonic and Methylmalonic Aciduria
08/2011

Drug/Important Bio-Agent (IBA)

17N-Acetylneuraminic Acid (Sialic Acid)IBA
11/2021 - 07/2003
14Proteins (Proteins, Gene)FDA Link
01/2020 - 07/2002
11EnzymesIBA
11/2021 - 07/2002
9Racemases and Epimerases (Epimerases and Racemases)IBA
02/2020 - 03/2004
8N-acetylmannosamineIBA
11/2021 - 11/2005
8Uridine Diphosphate (UDP)IBA
02/2020 - 03/2004
6AcetylglucosamineIBA
02/2020 - 03/2004
6Phosphotransferases (Kinase)IBA
10/2019 - 11/2005
5N-acylmannosamine kinaseIBA
02/2020 - 03/2004
5Polysaccharides (Glycans)IBA
08/2018 - 08/2006
3N,N-diacetylchitobioseIBA
10/2019 - 11/2008
3Biomarkers (Surrogate Marker)IBA
10/2018 - 01/2014
33-methylglutaconic acidIBA
01/2014 - 06/2010
2LectinsIBA
08/2018 - 04/2012
2MonosaccharidesIBA
01/2017 - 12/2012
2DNA (Deoxyribonucleic Acid)IBA
01/2016 - 06/2013
23-methylglutaric acidIBA
01/2014 - 06/2010
2Nonsense Codon (Nonsense Mutation)IBA
01/2010 - 02/2002
2Homogentisate 1,2-Dioxygenase (Homogentisate 1,2 Dioxygenase)IBA
12/2009 - 12/2002
2Homogentisic AcidIBA
12/2009 - 12/2002
2CeroidIBA
04/2008 - 04/2006
1CoagulantsIBA
05/2020
1Deamino Arginine Vasopressin (Desmopressin)FDA LinkGeneric
05/2020
1Growth Hormone (Somatotropin)IBA
01/2017
1Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA
06/2015
1AlbuminsIBA
06/2015
1carbohydrate-deficient transferrinIBA
06/2015
1UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinaseIBA
08/2014
1GlycosphingolipidsIBA
03/2014
1SugarsIBA
03/2014
1Galectin 3 (LGALS3)IBA
03/2014
1Thomsen-Friedenreich antigenIBA
01/2014
1Protein Isoforms (Isoforms)IBA
08/2013
1Melanins (Melanin)IBA
06/2013
1Vitamin DFDA LinkGeneric
04/2013
1Mixed Function Oxygenases (Monooxygenases)IBA
04/2013
1Vitamin D3 24-HydroxylaseIBA
04/2013
1Parathyroid Hormone (Parathormone)IBA
04/2013
1calcium phosphateIBA
04/2013
1hydroxide ionIBA
04/2013
1Drinking WaterIBA
12/2012
1Retinal Pigments (Pigments, Visual)IBA
08/2012
1podocalyxinIBA
04/2012
1nephrinIBA
04/2012
1Transaminases (Aminotransferases)IBA
11/2011
1Monophenol Monooxygenase (Tyrosinase)IBA
10/2011
1methylmalonyl-coenzyme A (methylmalonyl CoA)IBA
08/2011
1malonyl-CoA synthetaseIBA
08/2011
1Tretinoin (Retinoic Acid)FDA LinkGeneric
01/2011

Therapy/Procedure

6Therapeutics
10/2018 - 12/2002
2Oral Administration
06/2021 - 01/2017
1Platelet Transfusion (Blood Platelet Transfusions)
05/2020
1Lung Transplantation
05/2020
1Transplantation
11/2018
1Surgical Portasystemic Shunt (Portosystemic Shunt)
01/2013