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C R Roe Selected Research

Carnitine-Acylcarnitine Translocase Deficiency

1/2006Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.
5/2001Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family.
1/2000Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency.

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C R Roe Research Topics

Disease

2Trifunctional Protein Deficiency With Myopathy And Neuropathy
01/2006 - 01/2000
2VLCAD deficiency
10/2001 - 03/2000
2Hyperammonemia
05/2001 - 01/2000
2Hypoglycemia (Reactive Hypoglycemia)
05/2001 - 01/2000
1Myalgia
07/2008
1Rhabdomyolysis
07/2008
1Lactic Acidosis
01/2003
1Medium chain acyl CoA dehydrogenase deficiency
01/2003
1Cystic Kidney Diseases (Cystic Kidney Disease)
10/2001
1Multiple Acyl Coenzyme A Dehydrogenase Deficiency
10/2001
12-Methylbutyryl-CoA Dehydrogenase Deficiency
06/2000
1Dehydration (Water Stress)
03/2000
1Sudden Infant Death (SID)
01/2000
1Liver Diseases (Liver Disease)
01/2000

Drug/Important Bio-Agent (IBA)

3Carnitine-Acylcarnitine Translocase DeficiencyIBA
01/2006 - 01/2000
2Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)IBA
07/2008 - 01/2006
2acylcarnitineIBA
01/2006 - 03/2000
2Fatty Acids (Saturated Fatty Acids)IBA
01/2003 - 01/2000
2Oxidoreductases (Dehydrogenase)IBA
01/2003 - 01/2000
2Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA
10/2001 - 03/2000
2Carnitine Acyltransferases (Carnitine-Acylcarnitine Translocase)IBA
05/2001 - 01/2000
1Dietary Fats (Dietary Fat)IBA
07/2008
1Carnitine palmitoyl transferase 2 deficiencyIBA
07/2008
1CarbohydratesIBA
07/2008
13-Hydroxyacyl-CoA DehydrogenaseIBA
01/2006
1octanoyl-coenzyme AIBA
01/2003
1PalmitatesIBA
01/2003
1Carnitine (L-Carnitine)FDA LinkGeneric
01/2003
1respiratory complex IIIBA
01/2003
1butyryl-coenzyme AIBA
01/2003
1butyrylcarnitineIBA
01/2003
1Unsaturated Fatty Acids (Polyunsaturated Fatty Acids)IBA
10/2001
1alpha-Fetoproteins (alpha-Fetoprotein)IBA
10/2001
1Isoleucine (L-Isoleucine)FDA Link
06/2000
1dimemorfan (AT 17)IBA
03/2000
1Hypoglycemic Agents (Hypoglycemics)IBA
03/2000