Shadab Salehpour Selected Research

pterin-4a-carbinolamine dehydratase

1/2017

Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.

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Shadab Salehpour Research Topics

Disease

3	Phenylketonurias (Phenylketonuria) 09/2021 - 01/2017
1	Sphingolipidoses (Sphingolipidosis) 03/2022
1	Uniparental Disomy 11/2018
1	Goldberg-Shprintzen megacolon syndrome 01/2017
1	6-pyruvoyl-tetrahydropterin synthase deficiency 01/2017
1	B BH4-Deficient Hyperphenylalaninemia 01/2017
1	Coarse facial features 08/2016
1	Dysostoses 08/2016
1	Mucolipidoses (Sialidosis) 08/2016
1	Tay-Sachs Disease 01/2014
1	GM2 Gangliosidoses (GM2 Gangliosidosis) 01/2014
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2014
1	Paralysis (Palsy) 12/2013
1	Nervous System Diseases (Neurological Disorders) 12/2013
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 12/2013
1	Seizures (Absence Seizure) 12/2013
1	Synostosis 07/2009

Drug/Important Bio-Agent (IBA)

2	EnzymesIBA 03/2022 - 08/2016
2	GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA 09/2021 - 01/2017
2	6-pyruvoyltetrahydropterin synthase (PTPS)IBA 09/2021 - 01/2017
1	HydrolasesIBA 03/2022
1	SphingolipidsIBA 03/2022
1	sapropterin (tetrahydrobiopterin)FDA Link 09/2021
1	Dihydropteridine Reductase (6,7 Dihydropteridine Reductase)IBA 09/2021
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 11/2018
1	Amino Acids FDA Link 11/2018
1	Prostaglandins DIBA 11/2018
1	pterin-4a-carbinolamine dehydrataseIBA 01/2017
1	Nonsense Codon (Nonsense Mutation)IBA 01/2017
1	mutalipocin IIIBA 08/2016
1	AcidsIBA 08/2016
1	GlycosaminoglycansIBA 08/2016
1	Uridine Diphosphate (UDP)IBA 08/2016
1	G(M2) Ganglioside (Ganglioside GM2)IBA 01/2014
1	beta-N-AcetylhexosaminidasesIBA 01/2014
1	miglustat (Zavesca)FDA Link 12/2013

Therapy/Procedure

1	Therapeutics 12/2013
1	Sutures (Suture) 07/2009