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J A Smeitink Selected Research

J A Smeitink Research Topics

Disease

2Muscle Hypotonia (Hypotonia)
08/2001 - 04/2000
2Smith-Lemli-Opitz Syndrome
05/2001 - 08/2000
2autosomal recessive Segawa syndrome
12/2000 - 04/2000
2Disease Progression
04/2000 - 01/2000
1Mitochondrial Diseases (Mitochondrial Disease)
08/2008
1Wolcott-Rallison syndrome
08/2008
1Acute Liver Failure (Fulminant Hepatic Failure)
08/2008
1Liver Failure
08/2008
1Mitochondrial cytopathy
09/2004
1Mucolipidoses (Sialidosis)
09/2001
1Failure to Thrive
08/2001
1Seizures (Absence Seizure)
08/2001
1MELAS Syndrome (Syndrome, MELAS)
08/2001
1Cardiomyopathies (Cardiomyopathy)
08/2001
1Lactic Acidosis
08/2001
1Glycogen Storage Disease Type II (Pompe's Disease)
04/2001
1Muscular Diseases (Myopathy)
04/2001
1Parkinsonian Disorders (Parkinsonism)
12/2000
1Hypokinesia (Bradykinesia)
04/2000
1Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
04/2000

Drug/Important Bio-Agent (IBA)

3EnzymesIBA
09/2004 - 05/2001
2Mitochondrial DNA (mtDNA)IBA
08/2001 - 01/2000
27-dehydrocholesterolIBA
05/2001 - 08/2000
2CholesterolIBA
05/2001 - 08/2000
1Phosphotransferases (Kinase)IBA
08/2008
1Peptide Initiation Factors (Initiation Factor)IBA
08/2008
1mannose-6-phosphateIBA
09/2001
1UDP- N- acetylglucosamine- lysosomal- enzyme- N- acetylglucosaminephosphotransferaseIBA
09/2001
1LigandsIBA
09/2001
17-dehydrocholesterol reductaseIBA
05/2001
1alpha-Glucosidases (Acid Maltase)IBA
04/2001
1AcidsIBA
04/2001
1Levodopa (L Dopa)FDA LinkGeneric
12/2000
1Oxidoreductases (Dehydrogenase)IBA
08/2000
1Simvastatin (Zocor)FDA LinkGeneric
04/2000
1DNA (Deoxyribonucleic Acid)IBA
04/2000
1Fatty Acids (Saturated Fatty Acids)IBA
04/2000
1Neurotransmitter Agents (Neurotransmitter)IBA
04/2000

Therapy/Procedure

1Liver Transplantation
08/2008
1Enzyme Therapy
04/2001
1Therapeutics
04/2000