HOMEPRODUCTSSERVICESCOMPANYCONTACTFAQResearchDictionaryPharmaMobileSign Up FREE or Login

S DiMauro Selected Research

polyglucosan

10/2011Progress and problems in muscle glycogenoses.
12/2010Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies.
4/2008Placental involvement in glycogen storage disease type IV.
8/2001Muscle glycogenoses.
6/2001Surprises of genetic engineering: a possible model of polyglucosan body disease.

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 network!


Choose Username:
Email:
Password:
Verify Password:


S DiMauro Research Topics

Disease

10Muscular Diseases (Myopathy)
05/2008 - 02/2000
6Mitochondrial Myopathies (Mitochondrial Myopathy)
10/2010 - 06/2000
6Myoglobinuria
01/2008 - 06/2000
5Cerebellar Ataxia (Dysmetria)
01/2008 - 04/2001
5Cardiomyopathies (Cardiomyopathy)
06/2002 - 08/2000
4Glycogen Storage Disease Type IV (Andersen's Disease)
12/2010 - 06/2001
4Glycogen Storage Disease (Glycogenosis)
12/2010 - 08/2000
4Ataxia (Dyssynergia)
01/2006 - 04/2001
3Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
10/2010 - 04/2001
3Glycogen Storage Disease Type V (McArdle's Disease)
05/2008 - 02/2000
3Atrophy
01/2008 - 04/2003
3Mitochondrial Diseases (Mitochondrial Disease)
02/2006 - 06/2000
2Lafora Disease
10/2011 - 06/2001
2Glycogen Storage Disease Type II (Pompe's Disease)
10/2011 - 06/2001
2Parkinsonian Disorders (Parkinsonism)
10/2011 - 11/2000
2Leigh Disease (Leigh's Disease)
12/2008 - 11/2000
2Stroke (Strokes)
02/2006 - 08/2004
2Lactic Acidosis
02/2006 - 04/2004
2Seizures (Seizure)
01/2006 - 04/2001
2Mental Retardation (Idiocy)
04/2001 - 08/2000
2Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
06/2000 - 01/2000
1Malformations of Cortical Development
12/2010
1Muscle Hypotonia (Hypotonia)
12/2010
1Muscle Weakness
01/2006
1Apraxias (Dyspraxia)
02/2005
1MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers)
06/2004
1Spinocerebellar Degenerations (Marinesco Sjogren Syndrome)
03/2004
1Hypogonadism (Hypergonadotropic Hypogonadism)
03/2004
1Hypertrophy
01/2004
1Spinal Muscular Atrophy (Progressive Muscular Atrophy)
06/2003
1Fatigue
04/2002
1Muscle Cramp (Cramp)
08/2001
1Pain (Aches)
07/2001
1Hearing Loss (Hearing Impairment)
11/2000
1Deafness (Deaf Mutism)
11/2000
1Lipoma (Lipomata)
11/2000
1Kearns-Sayre Syndrome
09/2000

Drug/Important Bio-Agent (IBA)

18Mitochondrial DNA (mtDNA)IBA
10/2010 - 01/2000
6GlycogenIBA
10/2011 - 02/2000
6coenzyme Q10 (CoQ10)IBA
01/2008 - 04/2001
5polyglucosanIBA
10/2011 - 06/2001
4Lactic AcidFDA LinkGeneric
05/2008 - 04/2004
31,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)IBA
12/2010 - 09/2004
2UbiquinoneIBA
01/2008 - 02/2005
2DNA (Deoxyribonucleic Acid)IBA
02/2006 - 09/2001
2Creatine Kinase (Creatine Phosphokinase)IBA
01/2006 - 07/2001
2Electron Transport Complex IV (Cytochrome c Oxidase)IBA
01/2004 - 09/2000
2alpha-Glucosidases (Acid Maltase)IBA
06/2001 - 08/2000
2Myophosphorylase deficiencyIBA
02/2000 - 02/2000
1Phosphoglycerate Kinase (Kinase, Phosphoglycerate)IBA
10/2011
1BezafibrateIBA
10/2010
1Cyclic AMP-Dependent Protein Kinases (cAMP-Dependent Protein Kinase)IBA
12/2008
1Glucose (Dextrose)FDA LinkGeneric
05/2008
1Cardiofaciocutaneous syndromeIBA
01/2008
1Dichloroacetate (Dichloroacetic Acid)IBA
02/2006
1Adenosine Triphosphate (ATP)IBA
02/2006
1AmylopectinIBA
09/2004
1type 1 Pena Shokeir syndromeIBA
09/2004
1lysine- tRNAIBA
06/2004
1Phe Transfer RNAIBA
06/2004
1phenylalanine- tRNAIBA
06/2004
1Thymidine KinaseIBA
10/2002
1Gly Transfer RNAIBA
04/2002
1Proteins (Proteins, Gene)IBA
09/2001
1TubulinIBA
07/2001
1Periodic AcidIBA
06/2001
1Levodopa (L Dopa)FDA LinkGeneric
11/2000
1Maternally Inherited Leigh SyndromeIBA
11/2000
1Nonsense Codon (Nonsense Mutation)IBA
09/2000
1Cytochromes b (Cytochrome b)IBA
09/2000
1Cytochromes c (Cytochrome c)IBA
09/2000
1ubiquinolIBA
09/2000
1Electron Transport Complex I (NADH-CoQ Reductase)IBA
06/2000
1Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)IBA
06/2000
1Muscle Form Glycogen Phosphorylase (Myophosphorylase)IBA
02/2000

Therapy/Procedure

1Hematopoietic Stem Cell Transplantation
10/2010
1Heart Transplantation (Grafting, Heart)
06/2002