Concepedia

GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia

A. Niederwieser, Nenad Blau, M. Wang, Peter Joller, Márquez Atars, J. Cardesa-Garcia

European Journal of Pediatrics · 1984 · 175 citations · 23 references

DOI

Concepts

References

23

Chemistry and biology of pteridines

C. Fromageot · Biochimica et Biophysica Acta · 1956 · 1.2K citations

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Phenylketonuria Due to a Deficiency of Dihydropteridine Reductase

Seymour Kaufman, Neil A. Holtzman, Sheldon Milstien et al. · New England Journal of Medicine · 1975 · 314 citations

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Structural and metabolic relationship between the molybdenum cofactor and urothione.

Jason L. Johnson, K.V. Rajagopalan · Proceedings of the National Academy of Sciences · 1982 · 268 citations

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Hyperphenylalaninemia Due to a Deficiency of Biopterin

Seymour Kaufman, Stanley Berlow, George K. Summer et al. · New England Journal of Medicine · 1978 · 189 citations

, , +15

Characteristics of guanosine triphosphate cyclohydrolase I purified from Escherichia coli.

Jae‐Joon Yim, Gene M. Brown · Journal of Biological Chemistry · 1976 · 153 citations · Full text

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