HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Sidney M Gospe Selected Research

Hypermanganesemia with Dystonia Polycythemia and Cirrhosis

1/2016Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man.
3/2012Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown:


Sidney M Gospe Research Topics

Disease

15Pyridoxine-dependent epilepsy
01/2022 - 03/2002
9Seizures (Absence Seizure)
12/2012 - 09/2005
7Epilepsy (Aura)
01/2021 - 11/2003
7Brain Diseases (Brain Disorder)
01/2021 - 04/2006
3Optic Nerve Diseases (Optic Neuropathy)
10/2020 - 01/2017
2Optic Atrophy
10/2020 - 01/2019
2Ischemic Optic Neuropathy (Anterior Ischemic Optic Neuropathy)
11/2018 - 09/2018
2Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
01/2016 - 03/2012
2Movement Disorders (Movement Disorder)
06/2014 - 03/2012
1Macular Degeneration (Age-Related Maculopathy)
05/2022
1Developmental Disabilities (Developmental Disability)
01/2022
1Demyelinating Diseases (Demyelinating Disease)
03/2021
1Hemianopsia (Bitemporal Hemianopsia)
03/2021
1Ganglion Cysts (Ganglion)
03/2021
1Neuromyelitis Optica (Devic's Disease)
03/2021
1Optic Neuritis (Retrobulbar Neuritis)
03/2021
1Intellectual Disability (Idiocy)
01/2021
1Drug Resistant Epilepsy
01/2021
1Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy)
10/2020
1Glioblastoma (Glioblastoma Multiforme)
09/2019
1Hypesthesia (Numbness)
09/2019
1Diplopia (Double Vision)
09/2019
1Hypophosphatasia
07/2019
1Leigh Disease (Leigh's Disease)
01/2019
1Retinitis Pigmentosa (Pigmentary Retinopathy)
01/2019
1Mitochondrial Diseases (Mitochondrial Disease)
01/2019
1Vitreous Detachment (Posterior Vitreous Detachment)
11/2018
1Retinoschisis (Retinoschisis, Juvenile)
09/2018
1Starvation
03/2016
1Vomiting
03/2016
1Channelopathies
01/2016
1Myotonia Congenita (Thomsen Disease)
04/2014
1Muscular Dystrophies (Muscular Dystrophy)
04/2014
1Gliosis
04/2014
1Walker-Warburg Syndrome
04/2014
1Retinal Degeneration
01/2013
1Vision Disorders (Hemeralopia)
01/2013
1Epileptic Syndromes
12/2012
1Clinical Deterioration
11/2012
1Vitamin B 6 Deficiency (Pyridoxine Deficiency)
09/2011
1Infantile Hypophosphatasia
09/2011
1Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
09/2011
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
01/2010
1Infantile Spasms (West Syndrome)
05/2009
1Sudden Infant Death (SID)
01/2009
1Nemaline Myopathies (Nemaline Myopathy)
02/2007
1Infections
01/2006
1Fetal Diseases (Embryopathy)
01/2006

Drug/Important Bio-Agent (IBA)

16Pyridoxine (Pyridoxin)FDA LinkGeneric
01/2022 - 03/2002
7Oxidoreductases (Dehydrogenase)IBA
01/2022 - 04/2006
5Anticonvulsants (Antiepileptic Drugs)IBA
12/2012 - 04/2006
4Biomarkers (Surrogate Marker)IBA
03/2021 - 04/2011
4Vitamin B 6IBA
01/2021 - 11/2003
4Lysine (L-Lysine)FDA Link
01/2021 - 11/2012
4pipecolic acidIBA
11/2012 - 04/2006
4Leucovorin (Folinic Acid)FDA Link
09/2011 - 10/2009
3Retinaldehyde (Retinal)IBA
03/2021 - 01/2017
2ManganeseIBA
01/2016 - 03/2012
2Pyridoxal Phosphate (Pyridoxal 5 Phosphate)IBA
01/2010 - 04/2006
2allysineIBA
01/2010 - 10/2009
1Myelin-Oligodendrocyte GlycoproteinIBA
03/2021
1Immunoglobulin G (IgG)IBA
03/2021
1EnzymesIBA
01/2021
1N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA
07/2019
1asfotase alfaIBA
07/2019
1Alkaline PhosphataseIBA
07/2019
1Electron Transport Complex I (NADH-CoQ Reductase)IBA
01/2019
1Vitamin A (Retinol)FDA LinkGeneric
03/2016
1Lamotrigine (Lamictal)FDA LinkGeneric
01/2016
1Q-Type Calcium Channels (Q-Type Calcium Channel)IBA
01/2016
1Ion Channels (Ion Channel)IBA
01/2016
1Sodium Channels (Sodium Channel)IBA
01/2016
1Oxycodone (Oxycontin)FDA LinkGeneric
06/2014
1Valproic Acid (Depakote)FDA LinkGeneric
06/2014
1Clonidine (ST 155)FDA LinkGeneric
06/2014
1Protein CIBA
04/2014
1RhodanineIBA
04/2014
1Nonsense Codon (Nonsense Mutation)IBA
04/2014
1protein O-mannosyltransferase (dolichyl-phosphate-mannose - protein mannosyltransferase)IBA
04/2014
1Proteins (Proteins, Gene)FDA Link
04/2014
1PeripherinsIBA
01/2013
1Membrane Proteins (Integral Membrane Proteins)IBA
01/2013
1Phosphates (Orthophosphate)IBA
09/2011
1Neurotransmitter Agents (Neurotransmitter)IBA
04/2011
1pyridoxine 5-phosphateIBA
07/2010
1VitaminsIBA
01/2010
1SmokeIBA
01/2009
1Actins (F Actin)IBA
02/2007
1VaccinesIBA
01/2006

Therapy/Procedure

7Therapeutics
01/2022 - 04/2006
2Traction
11/2018 - 09/2018
1Cardiopulmonary Bypass (Heart-Lung Bypass)
05/2022
1Telescopes
09/2019
1Treatment Delay
09/2011