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Article
Alternative donor marrow transplantation in children with aplastic anemia using low-dose irradiation and fludarabine-based conditioning
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Article
Urinary propionylcarnitine analysis for monitoring carnitine supplementation in inherited disorders of propionate metabolism
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Article
Quantitative analysis of amniotic fluid pyrimidines for the prenatal diagnosis of hereditary orotic aciduria
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Article
Multiple enzyme defects in mitochondria of a case with congenital lactic acidosis and hyperammonaemia
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Article
Identification of glutarylcarnitine in glutaric aciduria type 1
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Article
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome and NADH-CoQ reductase deficiency
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Article
Pyroglutamic aciduria in propionyl CoA carboxylase deficiency
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Article
Biochemical evidence of carnitine effect on propionate elimination
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Article
Different ketogenic response to medium-chain triglycerides and to long-chain triglycerides in a case of muscular carnitine palmitoyltransferase deficiency