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Marjan Huizing Selected Research

Platelet Storage Pool Deficiency

12/2008Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency.
2/2002Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.

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Marjan Huizing Research Topics

Disease

14Muscular Diseases (Myopathy)
09/2015 - 03/2004
6Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome)
08/2012 - 02/2002
5Sialic Acid Storage Disease (Salla Disease)
03/2010 - 07/2003
3Pulmonary Fibrosis (Hamman Rich Syndrome)
03/2014 - 04/2006
3Oculocutaneous Albinism (Albinism, Yellow Mutant)
06/2013 - 02/2002
3Hypopigmentation (Hypomelanosis)
10/2011 - 08/2002
3Inflammation
12/2009 - 06/2009
2Mental Retardation (Idiocy)
06/2015 - 06/2009
2Smith-Magenis Syndrome
01/2011 - 07/2009
2Optic Atrophy
08/2010 - 06/2010
2Alkaptonuria
12/2009 - 12/2002
2Ochronosis
12/2009 - 12/2002
2Platelet Storage Pool Deficiency
12/2008 - 02/2002
1Congenital Disorders of Glycosylation
06/2015
1Muscle Hypotonia (Hypotonia)
06/2015
1Epilepsy (Aura)
06/2015
1Seizures (Seizure)
06/2015
1Idiopathic Pulmonary Fibrosis
03/2014
1Hypercalcemia (Milk Alkali Syndrome)
04/2013
1Nephrolithiasis
04/2013
1Hypercalciuria
04/2013
1Nephrocalcinosis
04/2013
1Hemorrhage
01/2013
1Albuminuria
04/2012
1Piebaldism (Partial Albinism)
09/2010
1Ataxia (Dyssynergia)
08/2010
1Movement Disorders (Movement Disorder)
08/2010
1Chediak-Higashi Syndrome
01/2010
1Pancytopenia
01/2010
1Arthritis (Polyarthritis)
12/2009
1Infection
06/2009
1Central Core Myopathy (Central Core Disease)
01/2009
1Rhabdomyolysis
12/2008
1Proteinuria
06/2007
1Colitis
04/2006
1Muscular Dystrophies (Muscular Dystrophy)
09/2005
1Muscle Weakness
03/2004
1Gray Platelet Syndrome
07/2003
1Primary Myelofibrosis (Myelosclerosis)
07/2003

Drug/Important Bio-Agent (IBA)

10N-Acetylneuraminic Acid (Sialic Acid)IBA
12/2014 - 07/2003
5N-acetylmannosamineIBA
09/2015 - 11/2005
5Uridine Diphosphate (UDP)IBA
11/2011 - 03/2004
4Phosphotransferases (Kinase)IBA
03/2010 - 11/2005
4Proteins (Proteins, Gene)IBA
12/2009 - 07/2003
3N-acylmannosamine kinaseIBA
11/2011 - 03/2004
3AcetylglucosamineIBA
11/2011 - 03/2004
2PolysaccharidesIBA
01/2014 - 08/2006
23-methylglutaconic acidIBA
08/2010 - 06/2010
2Costeff optic atrophy syndromeIBA
08/2010 - 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
2Free sialic acid storage diseaseIBA
06/2009 - 07/2003
2CeroidIBA
04/2008 - 04/2006
1Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA
06/2015
1carbohydrate-deficient transferrinIBA
06/2015
1UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinaseIBA
08/2014
1GlycosphingolipidsIBA
03/2014
1Galectin 3 (LGALS3)IBA
03/2014
1Thomsen-Friedenreich antigenIBA
01/2014
1Protein Isoforms (Isoforms)IBA
08/2013
1DNA (Deoxyribonucleic Acid)IBA
06/2013
1Melanins (Melanin)IBA
06/2013
1Vitamin DFDA LinkGeneric
04/2013
1Parathyroid Hormone (Parathormone)IBA
04/2013
1calcium phosphateIBA
04/2013
1hydroxide ionIBA
04/2013
1MonosaccharidesIBA
12/2012
1Retinaldehyde (Retinal)IBA
08/2012
1nephrinIBA
04/2012
1podocalyxinIBA
04/2012
1Monophenol Monooxygenase (Tyrosinase)IBA
10/2011
1Tretinoin (Retinoic Acid)FDA LinkGeneric
01/2011
1Griscelli syndrome type 2IBA
09/2010
13-methylglutaric acidIBA
06/2010
1Ferritins (Ferritin)IBA
01/2010
1Chemokine CCL2 (Monocyte Chemoattractant Protein 1)IBA
12/2009
1ChemokinesIBA
12/2009
1Messenger RNA (mRNA)IBA
12/2009
1CytokinesIBA
12/2009
1Granulocyte-Macrophage Colony-Stimulating Factor (GM-CSF)IBA
12/2009
1Chemokine CCL5IBA
12/2009
1trichrome stainIBA
09/2009
1MelatoninIBA
07/2009
1Interleukin-1 (Interleukin 1)IBA
06/2009
1AutoantibodiesIBA
06/2009
1Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
01/2009
1Oculocutaneous albinism type 1IBA
12/2008
1LipofuscinIBA
04/2008
1Oculocutaneous albinism type 2IBA
04/2008
1cyclo(5- hydroxytryptophyl- 5- hydroxytryptophyl)IBA
09/2007
1Uridine Diphosphate N-AcetylglucosamineIBA
06/2007
1Intravenous Immunoglobulins (IVIG)FDA Link
01/2007
1UDP acetylglucosamine-2-epimeraseIBA
11/2005
1N-acyl-D-glucosamine 2-epimeraseIBA
11/2005
1Dystroglycans (Dystroglycan)IBA
09/2005
1ClathrinIBA
01/2005
1GlycoconjugatesIBA
03/2004
1Complementary DNA (cDNA)IBA
07/2003

Therapy/Procedure

1Surgical Portasystemic Shunt (Portosystemic Shunt)
01/2013