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Shadab Salehpour Selected Research

Goldberg-Shprintzen megacolon syndrome

1/2017Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome.

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Shadab Salehpour Research Topics

Disease

3Phenylketonurias (Phenylketonuria)
09/2021 - 01/2017
1Muscle Hypotonia (Hypotonia)
12/2023
1Facies
12/2023
1Gaucher Disease (Gaucher's Disease)
01/2023
1Sphingolipidoses (Sphingolipidosis)
03/2022
1Uniparental Disomy
11/2018
16-pyruvoyl-tetrahydropterin synthase deficiency
01/2017
1Goldberg-Shprintzen megacolon syndrome
01/2017
1B BH4-Deficient Hyperphenylalaninemia
01/2017
1Dysostoses
08/2016
1Coarse facial features
08/2016
1Mucolipidoses (Sialidosis)
08/2016
1Neurodegenerative Diseases (Neurodegenerative Disease)
01/2014
1GM2 Gangliosidoses (GM2 Gangliosidosis)
01/2014
1Tay-Sachs Disease
01/2014
1Seizures (Absence Seizure)
12/2013
1Nervous System Diseases (Neurological Disorders)
12/2013
1Paralysis (Palsy)
12/2013
1Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)
12/2013
1Synostosis
07/2009

Drug/Important Bio-Agent (IBA)

3EnzymesIBA
01/2023 - 08/2016
2GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA
09/2021 - 01/2017
26-pyruvoyltetrahydropterin synthase (PTPS)IBA
09/2021 - 01/2017
1Ion Channels (Ion Channel)IBA
12/2023
1Glucosylceramides (Glucocerebrosides)IBA
01/2023
1Glucosylceramidase (Glucocerebrosidase)IBA
01/2023
1SphingolipidsIBA
03/2022
1HydrolasesIBA
03/2022
1sapropterin (tetrahydrobiopterin)FDA Link
09/2021
1Dihydropteridine Reductase (6,7 Dihydropteridine Reductase)IBA
09/2021
1Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA
11/2018
1Amino AcidsFDA Link
11/2018
1Prostaglandins DIBA
11/2018
1pterin-4a-carbinolamine dehydrataseIBA
01/2017
1Nonsense Codon (Nonsense Mutation)IBA
01/2017
1GlycosaminoglycansIBA
08/2016
1AcidsIBA
08/2016
1Uridine Diphosphate (UDP)IBA
08/2016
1mutalipocin IIIBA
08/2016
1beta-N-AcetylhexosaminidasesIBA
01/2014
1G(M2) Ganglioside (Ganglioside GM2)IBA
01/2014
1miglustat (Zavesca)FDA Link
12/2013

Therapy/Procedure

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