Simona Dumitriu Selected Research

Amelogenesis imperfecta nephrocalcinosis

2/2017

Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes.

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Simona Dumitriu Research Topics

Disease

1	Proteinuria 01/2022
1	Fanconi Syndrome (Syndrome, Fanconi) 01/2018
1	Fibrosis (Cirrhosis) 01/2018
1	Renal Insufficiency (Renal Failure) 01/2018
1	Nonsyndromic Deafness 02/2017
1	Amelogenesis imperfecta nephrocalcinosis 02/2017
1	Polycystic Kidney Diseases (Polycystic Kidney Disease) 01/2017
1	Hypoglycemia (Reactive Hypoglycemia) 01/2017
1	Nephrocalcinosis 01/2014
1	Bone Diseases (Bone Disease) 01/2014
1	Mucopolysaccharidosis II (Hunter Syndrome) 01/2013

Drug/Important Bio-Agent (IBA)

1	Proteins (Proteins, Gene)FDA Link 01/2022
1	glycine amidinotransferase (arginine-glycine amidinotransferase)IBA 01/2018
1	InflammasomesIBA 01/2018
1	Connexin 30IBA 02/2017
1	Connexin 26IBA 02/2017
1	Nonsense Codon (Nonsense Mutation)IBA 02/2017
1	phosphomannomutaseIBA 01/2017
1	claudin 16IBA 01/2014
1	GlycosaminoglycansIBA 01/2013
1	EnzymesIBA 01/2013

Therapy/Procedure

1	Enzyme Replacement Therapy 01/2013