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inborn errors

Question tag: inborn errors 16 Questions

0 Votes 1 Ans

What exactly are Inborn Errors of Metabolism (IEM)?

IEM inborn errors metabolism

0 Votes 1 Ans

What is cholesteryl ester storage disease?

cholesteryl cholesteryl ester storage disease disease Ester genetic diseases inborn errors lipid metabolism metabolism storage

0 Votes 1 Ans

What is carnitine-acylcarnitine translocase deficiency?

congenital Deficiency genetic diseases hereditary inborn inborn errors lipid metabolism metabolism translocase

0 Votes 1 Ans

What is carnitine palmitoyltransferase I deficiency?

carnitine congenital Deficiency genetic diseases hereditary inborn inborn errors lipid metabolism metabolism palmitoyltransferase

0 Votes 1 Ans

What is primary carnitine deficiency?

carnitine congenital Deficiency genetic diseases inborn inborn errors lipid metabolism metabolism primary

0 Votes 1 Ans

What genes are related to carnitine palmitoyltransferase 2 deficiency?

carnitine Deficiency genes genetic diseases inborn errors lipid metabolism metabolism palmitoyltransferase

0 Votes 1 Ans

What genes are related to mitochondrial trifunctional protein deficiency?

Deficiency genes genetic diseases inborn errors lipid metabolism metabolism mitochondrial protein trifunctional

0 Votes 1 Ans

What is glutathione synthetase deficiency?

congenital Deficiency genetic diseases Glutathione hereditary inborn inborn errors metabolism synthetase

0 Votes 1 Ans

What is ornithine translocase deficiency?

amino acid metabolism congenital Deficiency genetic diseases inborn inborn errors metabolism ornithine translocase

0 Votes 1 Ans

Where can I find information about treatment for hemochromatosis?

congenital genetic diseases hemochromatosis hereditary inborn inborn errors metabolism treatment

0 Votes 1 Ans

What is 2-methylbutyryl-coenzyme A dehydrogenase deficiency?

amino acid metabolism congenital Deficiency dehydrogenase genetic diseases hereditary inborn inborn errors metabolism

0 Votes 1 Ans

What is isobutyryl-coenzyme A dehydrogenase deficiency?

amino acid metabolism congenital Deficiency dehydrogenase genetic diseases hereditary inborn inborn errors metabolism

0 Votes 1 Ans

What is 3-hydroxyacyl-coenzyme A dehydrogenase deficiency?

congenital Deficiency dehydrogenase genetic diseases hereditary inborn inborn errors lipid metabolism metabolism

0 Votes 1 Ans

What is glycine encephalopathy?

amino acid metabolism brain diseases central nervous system diseases encephalopathy glycine glycine encephalopathy inborn inborn errors metabolic nervous system diseases

0 Votes 1 Ans

What is familial lipoprotein lipase deficiency?

Deficiency familial genetic diseases inborn inborn errors lipase lipid metabolism lipoprotein metabolism

0 Votes 1 Ans

How common is 3-MCC deficiency?

carboxylase common congenital Deficiency genetic diseases inborn inborn errors metabolism