72 results on '"Barshop, Bruce A."'
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2. Phosphoribosylpyrophosphate synthetase and its abnormalities
3. Medium-chain acyl CoA dehydrogenase deficiency
4. Argininosuccinic aciduria
5. Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin
6. Pearson syndrome
7. Kearns–Sayre syndrome
8. D-2-hydroxyglutaric (DL-2-hydroxyglutaric) aciduria
9. Introduction to the organic acidemias
10. Multiple carboxylase deficiency/biotinidase deficiency
11. Adenosine deaminase deficiency
12. Carbamylphosphate synthetase deficiency
13. Mitochondrial encephalomyelopathy, lactic acidosis, and stroke-like episodes (MELAS)
14. Glutaric aciduria (type I)
15. Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency
16. Citrullinemia type I
17. Glycogenosis type III/amylo-1, 6-glucosidase (debrancher) deficiency
18. 4-Hydroxybutyric aciduria
19. Isovaleric acidemia
20. L-2-hydroxyglutaric aciduria
21. The methylmalonic malonic aciduria of deficiency of AcylCoA synthetase (ACSF3)
22. 3-Hydroxy-3-methylglutarylCoA lyase deficiency
23. Homocystinuria
24. Lysinuric protein intolerance
25. Glutamine synthetase deficiency
26. Phenylketonuria
27. Nonketotic hyperglycinemia
28. Deficiency of the pyruvate dehydrogenase complex
29. Short-chain 3-hydroxyacylCoA dehydrogenase (SCHAD) deficiency
30. Alkaptonuria
31. Carnitine-acylcarnitine translocase deficiency
32. Myoclonic epilepsy and ragged red fiber (MERRF) disease
33. Multiple carboxylase deficiency/holocarboxylase synthetase deficiency
34. Glycogenosis type II/Pompe/lysosomal α-glucosidase deficiency
35. Carnitine palmitoyl transferase II deficiency, lethal neonatal
36. Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome
37. Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency
38. Introduction to disorders of fatty acid oxidation
39. Propionic acidemia
40. Maple syrup urine disease (branched-chain oxoaciduria)
41. Biogenic amines
42. Introduction to the disorders of purine and pyrimidine metabolism
43. Long-chain L-3-hydroxyacyl-CoA dehydrogenase – (trifunctional protein) deficiency
44. Carnitine transporter deficiency
45. Very long-chain acyl-CoA dehydrogenase deficiency
46. Argininemia
47. Atlas of Inherited Metabolic Diseases
48. Galactosemia
49. Glycogenosis type I – von Gierke disease
50. Multiple acyl CoA dehydrogenase deficiency/glutaric aciduria type II ethylmalonic-adipic aciduria
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