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Xuanzhu Liu Selected Research

Arts syndrome

6/2015The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
12/2014Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

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Xuanzhu Liu Research Topics

Disease

2Arts syndrome
06/2015 - 12/2014
2Global Cerebral Hypomyelination
01/2014 - 01/2014
2Epilepsy (Aura)
01/2014 - 01/2014
1Hypogonadism (Hypergonadotropic Hypogonadism)
04/2018
1Hearing Loss (Hearing Impairment)
06/2015
1Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
03/2015
1Deafness (Deaf Mutism)
12/2014
1Optic Atrophy
12/2014
1Atrophy
01/2014
1Muscle Hypotonia (Hypotonia)
01/2014
1Drug Resistant Epilepsy
01/2014
1Astrocytoma (Pilocytic Astrocytoma)
05/2013
1Mitochondrial Diseases (Mitochondrial Disease)
11/2012

Drug/Important Bio-Agent (IBA)

4EnzymesIBA
06/2015 - 11/2012
2Ribose-Phosphate Pyrophosphokinase (Phosphoribosyl Pyrophosphate Synthetase)IBA
06/2015 - 12/2014
2N-acetylaspartate (N-acetyl aspartate)IBA
01/2014 - 01/2014
1Gonadotropin-Releasing Hormone (GnRH)FDA Link
04/2018
1Protein Isoforms (Isoforms)IBA
05/2013
1Mitochondrial DNA (mtDNA)IBA
11/2012