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S DiMauro Selected Research

1,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)

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.
9/2004Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).

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S DiMauro Research Topics

Disease

8Muscular Diseases (Myopathy)
05/2008 - 02/2000
5Cerebellar Ataxia (Dysmetria)
08/2016 - 04/2001
5Mitochondrial Myopathies (Mitochondrial Myopathy)
10/2010 - 06/2000
4Glycogen Storage Disease Type IV (Andersen's Disease)
12/2010 - 06/2001
4Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
10/2010 - 01/2000
4Mitochondrial Diseases (Mitochondrial Disease)
02/2006 - 06/2000
4Ataxia (Dyssynergia)
01/2006 - 04/2001
3Glycogen Storage Disease (Glycogenosis)
12/2010 - 06/2001
3Recurrent Myoglobinuria
01/2008 - 09/2000
3Atrophy
01/2008 - 04/2003
3MELAS Syndrome (Syndrome, MELAS)
02/2006 - 04/2004
3Myoglobinuria
01/2006 - 06/2000
3Cytochrome-c Oxidase Deficiency
01/2004 - 05/2000
3Cardiomyopathies (Cardiomyopathy)
06/2002 - 09/2000
3Myalgia
08/2001 - 02/2000
2Glycogen Storage Disease Type II (Pompe's Disease)
10/2011 - 06/2001
2Lafora Disease
10/2011 - 06/2001
2Leigh Disease (Leigh's Disease)
12/2008 - 11/2000
2Glycogen Storage Disease Type V (McArdle's Disease)
05/2008 - 02/2000
2Lactic Acidosis
02/2006 - 04/2004
2Seizures (Absence Seizure)
01/2006 - 04/2001
2Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
06/2000 - 01/2000
1Adult Form Polyglucosan Body Disease
10/2011
1Glycogen Storage Disease Type VII (Tarui's Disease)
10/2011
1Polymicrogyria
12/2010
1Muscle Hypotonia (Hypotonia)
12/2010
1Glycogen Storage Disease Type Ix
05/2008
1Inborn Genetic Diseases (Disease, Hereditary)
01/2008
1Cardiofaciocutaneous syndrome
01/2008
1Brain Diseases (Brain Disorder)
01/2008
1Myopathy with Abnormal Lipid Metabolism
01/2006
1Muscle Weakness
01/2006
1Nephrotic Syndrome (Syndrome, Nephrotic)
08/2005
1Apraxias (Dyspraxia)
02/2005
1Stroke (Strokes)
08/2004
1MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers)
06/2004
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
1Intellectual Disability (Idiocy)
04/2001
1Deafness (Deaf Mutism)
11/2000
1Parkinsonian Disorders (Parkinsonism)
11/2000
1Kearns-Sayre Syndrome
09/2000

Drug/Important Bio-Agent (IBA)

19Mitochondrial DNA (mtDNA)IBA
10/2010 - 01/2000
7coenzyme Q10 (CoQ10)IBA
08/2016 - 04/2001
6GlycogenIBA
10/2011 - 02/2000
5polyglucosanIBA
10/2011 - 06/2001
4Proteins (Proteins, Gene)FDA Link
12/2008 - 08/2000
4Lactic Acid (Lactate)FDA LinkGeneric
05/2008 - 04/2004
31,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)IBA
12/2010 - 09/2004
3Creatine Kinase (Creatine Phosphokinase)IBA
01/2006 - 02/2000
3Electron Transport Complex IV (Cytochrome c Oxidase)IBA
01/2004 - 05/2000
2Transfer RNA (tRNA)IBA
01/2008 - 06/2004
2DNA (Deoxyribonucleic Acid)IBA
02/2006 - 09/2001
2Polysaccharides (Glycans)IBA
09/2004 - 06/2001
1PhosphofructokinasesIBA
10/2011
1BezafibrateIBA
10/2010
1Cyclic AMP-Dependent Protein Kinases (cAMP-Dependent Protein Kinase)IBA
12/2008
1Phosphorylase Kinase (Phosphorylase Kinase, Glycogen)IBA
05/2008
1Glucose (Dextrose)FDA LinkGeneric
05/2008
1UbiquinoneIBA
01/2008
1Adenosine Triphosphate (ATP)IBA
02/2006
1Adrenal Cortex Hormones (Corticosteroids)IBA
08/2005
1AmylopectinIBA
09/2004
1Phe Transfer RNAIBA
06/2004
1Phenylalanine (L-Phenylalanine)FDA Link
06/2004
1Lysine (L-Lysine)FDA Link
06/2004
1Thymidine KinaseIBA
10/2002
1Gly Transfer RNAIBA
04/2002
1TubulinIBA
07/2001
1AcidsIBA
06/2001
1Periodic AcidIBA
06/2001
1alpha-Glucosidases (Acid Maltase)IBA
06/2001
1LipidsIBA
04/2001
1Levodopa (L Dopa)FDA LinkGeneric
11/2000
1CarbohydratesIBA
09/2000
1Nonsense Codon (Nonsense Mutation)IBA
09/2000
1Oxidoreductases (Dehydrogenase)IBA
09/2000
1ubiquinolIBA
09/2000
1Cytochromes b (Cytochrome b)IBA
09/2000
1Cytochromes c (Cytochrome c)IBA
09/2000
1Electron Transport Complex I (NADH-CoQ Reductase)IBA
06/2000
1Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)IBA
06/2000
1Carnitine palmitoyl transferase 2 deficiencyIBA
06/2000
1EnzymesIBA
02/2000
1Muscle Form Glycogen Phosphorylase (Myophosphorylase)IBA
02/2000

Therapy/Procedure

3Therapeutics
10/2010 - 01/2000
1Hematopoietic Stem Cell Transplantation
10/2010
1Heart Transplantation (Grafting, Heart)
06/2002