Roel Smeets Selected Research

Leigh Disease (Leigh's Disease)

10/2003

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.

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Roel Smeets Research Topics

Disease

1	Fructose Intolerance (Intolerance, Fructose) 01/2022
1	Disease Progression 01/2019
1	Iron-Refractory Iron Deficiency Anemia 12/2016
1	Anemia 12/2016
1	Hypochromic Anemia (Chlorosis) 12/2016
1	Inflammation (Inflammations) 12/2016
1	Hypoglycemia (Reactive Hypoglycemia) 12/2014
1	Muscle Hypotonia (Hypotonia) 12/2014
1	Lactic Acidosis 12/2014
1	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 09/2009
1	Anovulation 05/2009
1	renal Oncocytoma 04/2008
1	Carcinogenesis 04/2008
1	Neoplasms (Cancer) 04/2008
1	Intellectual Disability (Idiocy) 10/2003
1	Leigh Disease (Leigh's Disease) 10/2003
1	Ataxia (Dyssynergia) 10/2003
1	Microcephaly 10/2003

Drug/Important Bio-Agent (IBA)

2	Proteins (Proteins, Gene)FDA Link 12/2016 - 09/2009
2	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 12/2014 - 04/2008
1	Polysaccharides (Glycans)IBA 01/2022
1	Mannose (D-Mannose)IBA 01/2022
1	DNA (Deoxyribonucleic Acid)IBA 01/2019
1	HepcidinsIBA 12/2016
1	Hemoglobins (Hemoglobin)IBA 12/2016
1	IronIBA 12/2016
1	matriptase 2IBA 12/2016
1	Fatty Acids (Saturated Fatty Acids)IBA 09/2009
1	AndrogensIBA 05/2009
1	Electron Transport Complex I (NADH-CoQ Reductase)IBA 04/2008
1	Mitochondrial DNA (mtDNA)IBA 04/2008
1	EnzymesIBA 04/2008
1	Dihydrolipoamide Dehydrogenase (Lipoamide Dehydrogenase)IBA 10/2003
1	Branched-Chain Amino AcidsIBA 10/2003