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J A Smeitink Selected Research
J A Smeitink Research Topics
Disease
2
Muscle Hypotonia (Hypotonia)
08/2001 - 04/2000
2
Smith-Lemli-Opitz Syndrome
05/2001 - 08/2000
2
autosomal recessive Segawa syndrome
12/2000 - 04/2000
2
Disease Progression
04/2000 - 01/2000
1
Mitochondrial Diseases (Mitochondrial Disease)
08/2008
1
Wolcott-Rallison syndrome
08/2008
1
Acute Liver Failure (Fulminant Hepatic Failure)
08/2008
1
Liver Failure
08/2008
1
Mitochondrial cytopathy
09/2004
1
Mucolipidoses (Sialidosis)
09/2001
1
Failure to Thrive
08/2001
1
Seizures (Absence Seizure)
08/2001
1
MELAS Syndrome (Syndrome, MELAS)
08/2001
1
Cardiomyopathies (Cardiomyopathy)
08/2001
1
Lactic Acidosis
08/2001
1
Glycogen Storage Disease Type II (Pompe's Disease)
04/2001
1
Muscular Diseases (Myopathy)
04/2001
1
Parkinsonian Disorders (Parkinsonism)
12/2000
1
Hypokinesia (Bradykinesia)
04/2000
1
Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
04/2000
Drug/Important Bio-Agent (IBA)
3
Enzymes
IBA
09/2004 - 05/2001
2
Mitochondrial DNA (mtDNA)
IBA
08/2001 - 01/2000
2
7-dehydrocholesterol
IBA
05/2001 - 08/2000
2
Cholesterol
IBA
05/2001 - 08/2000
1
Phosphotransferases (Kinase)
IBA
08/2008
1
Peptide Initiation Factors (Initiation Factor)
IBA
08/2008
1
mannose-6-phosphate
IBA
09/2001
1
UDP- N- acetylglucosamine- lysosomal- enzyme- N- acetylglucosaminephosphotransferase
IBA
09/2001
1
Ligands
IBA
09/2001
1
7-dehydrocholesterol reductase
IBA
05/2001
1
alpha-Glucosidases (Acid Maltase)
IBA
04/2001
1
Acids
IBA
04/2001
1
Levodopa (L Dopa)
FDA Link
Generic
12/2000
1
Oxidoreductases (Dehydrogenase)
IBA
08/2000
1
Simvastatin (Zocor)
FDA Link
Generic
04/2000
1
DNA (Deoxyribonucleic Acid)
IBA
04/2000
1
Fatty Acids (Saturated Fatty Acids)
IBA
04/2000
1
Neurotransmitter Agents (Neurotransmitter)
IBA
04/2000
Therapy/Procedure
1
Liver Transplantation
08/2008
1
Enzyme Therapy
04/2001
1
Therapeutics
04/2000