Concepedia

Unusual presentations of propionic acidemia

Pinar T. Ozand, M. S. Rashed, Generoso G. Gascon, N.G. Youssef, H. Harfi, Zuhair Rahbeeni, S. Al Garawi, A. Al Aqeel

Brain and Development · 1994 · 63 citations · 31 references

DOI

Concepts

References

31

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

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The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

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Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

David S. Millington, Naoki Kodo, Daniel L. Norwood et al. · Journal of Inherited Metabolic Disease · 1990 · 576 citations

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Techniques in diagnostic human biochemical genetics

Emmanuel Shapira · Europe PMC (PubMed Central) · 1991 · 351 citations

, , +7

Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia.

F. X. Coudé, Lawrence Sweetman, William L. Nyhan · Journal of Clinical Investigation · 1979 · 215 citations · Full text

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