Concepedia

Homocystinuria: An Enzymatic Defect

S. Harvey Mudd, James D. Finkelstein, F. Irreverre, Leonard Laster

Science · 1964 · 523 citations · 5 references

DOI

Concepts

Abstract

A deficiency, or absence, of cystathionine synthetase activity has been demonstrated in liver obtained from a mentally retarded child with homocystinuria.

References

5

The Biochemistry of the Amino Acids

Nature · 1929 · 632 citations

, , +12

The identification of homocystine in the urine

Theo Gerritsen, James G. Vaughn, Harry A. Waisman · Biochemical and Biophysical Research Communications · 1962 · 283 citations

, , +1

Homocystinuria: A new inborn error of Metabolism associated with Mental Deficiency

N. A. J. Carson, D. C. Cusworth, C. E. Dent et al. · Archives of Disease in Childhood · 1963 · 247 citations · Full text

, , +6

l-CYSTATHIONINE IN HUMAN BRAIN

Harris H. Tallan, Stanford Moore, William H. Stein · Journal of Biological Chemistry · 1958 · 181 citations · Full text

, , +5

THE RELATION OF SULFUR METABOLISM TO ACID-BASE BALANCE AND ELECTROLYTE EXCRETION: THE EFFECTS OF DL-METHIONINE IN NORMAL MAN*†

Jacob Lemann, Arnold S. Relman · Journal of Clinical Investigation · 1959 · 150 citations · Full text

, , +17