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Robert J Hopkin Selected Research

Ermine phenotype

6/2009Phenotypic and microscopic description of a new case of Ermine phenotype.

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Robert J Hopkin Research Topics

Disease

8Fabry Disease (Fabry's Disease)
05/2013 - 01/2003
3Hearing Loss (Hearing Impairment)
10/2014 - 11/2003
2Mandibulofacial Dysostosis (Treacher Collins Syndrome)
05/2015 - 04/2015
2Seizures (Seizure)
03/2015 - 07/2008
2Pathologic Constriction (Stenosis)
04/2014 - 08/2012
2Gaucher Disease (Gaucher's Disease)
05/2003 - 01/2003
1Alopecia (Baldness)
04/2015
1Neurodegenerative Diseases (Neurodegenerative Disease)
03/2015
1Sandhoff Disease (Sandhoff's Disease)
03/2015
1Vascular Diseases (Vascular Disease)
11/2014
1Myopia
10/2014
1Rare Diseases (Rare Disease)
07/2014
1Chondrodysplasia Punctata (Stippled Epiphyses)
04/2014
1Relapsing Polychondritis
04/2014
1Leigh Disease (Leigh's Disease)
12/2013
1Glycogen Storage Disease Type II (Pompe's Disease)
11/2012
1Hyperammonemia
08/2012
1Ornithine Carbamoyltransferase Deficiency Disease
08/2012
1Adrenal Insufficiency (Adrenal Gland Hypofunction)
02/2012
1Tetrasomy
06/2011
1Fetal Growth Retardation (Intrauterine Growth Retardation)
06/2011
1Noonan Syndrome (Female Pseudo-Turner Syndrome)
06/2011
1Neurofibromatosis 1 (Neurofibromatosis Type I)
06/2011
1Cardiovascular Diseases (Cardiovascular Disease)
06/2011
1Primary Hypertrophic Osteoarthropathy (Hypertrophic Osteoarthropathy, Primary)
06/2010
1Proteinuria
03/2010
1Nephrotic Syndrome (Syndrome, Nephrotic)
03/2010
1Renal Insufficiency (Renal Failure)
03/2010
1Alagille Syndrome
09/2009
1Cholestasis
09/2009
1Uniparental Disomy
09/2009
1Hemangioendothelioma
08/2009
1Hemangioma (Angioma)
08/2009
1Hepatoblastoma
08/2009
1Chromosome Aberrations (Chromosome Abnormalities)
06/2009
1Inborn Genetic Diseases (Disease, Hereditary)
06/2009
1Deafness (Deaf Mutism)
06/2009
1Neuralgia (Stump Neuralgia)
10/2008
1Mental Retardation (Idiocy)
07/2008
1Epilepsy (Aura)
07/2008
1Autistic Disorder (Autism)
07/2008
1Dyskinesias (Dyskinesia)
07/2008
1Marfan Syndrome (Marfan's Syndrome)
09/2007
1Glycogen Storage Disease Type IV (Andersen's Disease)
04/2006
1Cleidocranial Dysplasia (Cleidocranial Dysostosis)
02/2006
1Supernumerary Tooth (Supernumerary Teeth)
02/2006
1Confusion (Bewilderment)
08/2005
1Luteoma
08/2004
1Disorders of Sex Development (Intersexuality)
08/2004
1Synostosis
08/2004
1Craniosynostoses (Craniosynostosis)
08/2004
1Contracture
08/2004

Drug/Important Bio-Agent (IBA)

5alpha-Galactosidase (Beano)IBA
03/2010 - 05/2003
3GlycosphingolipidsIBA
05/2013 - 09/2006
2ElastinIBA
11/2014 - 11/2003
2globotriaosylceramide (globotriosylceramide)IBA
05/2013 - 09/2006
2Antley-Bixler syndromeIBA
08/2005 - 08/2004
1DNA-Directed RNA Polymerases (RNA Polymerase)IBA
05/2015
1Endothelin Receptors (Endothelin Receptor)IBA
04/2015
1GangliosidesIBA
03/2015
1miglustat (Zavesca)FDA Link
03/2015
1Neuraminidase deficiency with beta-galactosidase deficiencyIBA
07/2014
1Keutel syndromeIBA
04/2014
1human ARSE proteinIBA
04/2014
1DNA (Deoxyribonucleic Acid)IBA
12/2013
1GalactosidasesIBA
05/2013
1GlucosidasesIBA
11/2012
1Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA
08/2012
1Urea (Carbamide)FDA LinkGeneric
08/2012
1tetrasomy Chromosome 15qIBA
08/2012
1Cosyntropin (Cortrosyn)FDA LinkGeneric
02/2012
1Complement System Proteins (Complement)IBA
06/2011
1Neurofibromin 1 (Neurofibromin)IBA
06/2011
1Hunter-McAlpine syndromeIBA
06/2011
1Neurofibromatosis-Noonan syndromeIBA
06/2011
1agalsidase betaFDA Link
11/2010
1Prostaglandins E (PGE)IBA
06/2010
115-hydroxyprostaglandin dehydrogenaseIBA
06/2010
1SteroidsIBA
03/2010
1Idiopathic minimal change nephrotic syndromeIBA
03/2010
1Hepatic ductular hypoplasiaIBA
09/2009
1alpha-Fetoproteins (AFP)IBA
08/2009
1TeratogensIBA
06/2009
1Ermine phenotypeIBA
06/2009
1Folic Acid (Vitamin M)FDA LinkGeneric
07/2008
1fibrillinIBA
09/2007
11,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)IBA
04/2006
117-alpha-Hydroxyprogesterone (17 Hydroxyprogesterone)IBA
08/2004
1ProgesteroneFDA LinkGeneric
08/2004
1Steroid 21-Hydroxylase (21 Hydroxylase)IBA
08/2004
1Fluconazole (Zonal)FDA LinkGeneric
08/2004
1LanosterolIBA
08/2004

Therapy/Procedure

3Enzyme Replacement Therapy
03/2010 - 09/2006
2Aftercare (After-Treatment)
03/2015 - 03/2010
2Enzyme Therapy
05/2003 - 01/2003
1Caloric Restriction
03/2015
1Ketogenic Diet
03/2015
1Tracheostomy
10/2014
1Immunotherapy
03/2010
1Sutures (Suture)
02/2006