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Items: 1 to 20 of 101

1.

Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man.

Kelley WN, Levy RI, Rosenbloom FM, Henderson JF, Seegmiller JE.

J Clin Invest. 1968 Oct;47(10):2281-9.

4.

Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout.

Kelley WN.

Fed Proc. 1968 Jul-Aug;27(4):1047-52. No abstract available.

PMID:
5658470
5.

The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.

Puig JG, Torres RJ, Mateos FA, Ramos TH, Arcas JM, Buño AS, O'Neill P.

Medicine (Baltimore). 2001 Mar;80(2):102-12.

6.
8.

Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.

Kelley WN, Greene ML, Rosenbloom FM, Henderson JF, Seegmiller JE.

Ann Intern Med. 1969 Jan;70(1):155-206. Review. No abstract available.

PMID:
4884382
9.

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase associated with gout and uric acid lithiasis.

Sperling O, Frank M, Ophir R, Liberman UA, Adam A, de Vries A.

Rev Eur Etud Clin Biol. 1970 Nov;15(9):942-7. No abstract available.

PMID:
5505084
10.

A new assay method for hypoxanthine-guanine phosphoribosyltransferase.

Chow DC, Kawahara FS, Saunders T, Sorensen LB.

J Lab Clin Med. 1970 Nov;76(5):733-8. No abstract available.

PMID:
5477333
11.

Biochemical bases of accelerated purine biosynthesis de novo in human fibroblasts lacking hypoxanthine-guanine phosphoribosyltransferase.

Rosenbloom FM, Henderson JF, Caldwell IC, Kelley WN, Seegmiller JE.

J Biol Chem. 1968 Mar 25;243(6):1166-73. No abstract available.

12.

Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

Seegmiller JE, Rosenbloom FM, Kelley WN.

Science. 1967 Mar 31;155(3770):1682-4.

PMID:
6020292
13.

[Phosphoribosyl transferase deficiency. Preliminary studies on a group of mentally retarded subjects].

Bravi A, Carcassi A, Bianco G, Di Paolo N, Lunghetti R.

Reumatismo. 1969 Sep-Oct;21(5):274-6. Italian. No abstract available.

PMID:
5404976
14.

Kinetic properties of hypoxanthine-guanine and adenine phosphoribosyltransferases.

Henderson JF.

Fed Proc. 1968 Jul-Aug;27(4):1053-4. No abstract available.

PMID:
5658471
15.

X-linked primary hyperuricaemia (hypoxanthine-guanine phosphoribosyltransferase deficiency encephalopathy.

Dreifuss FE, Newcombe DS, Shapiro SL, Sheppard GL.

J Ment Defic Res. 1968 Jun;12(2):100-7. No abstract available.

PMID:
5663935
16.
17.

Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme.

Bakay B, Nyhan WL, Fawcett N, Kogut MD.

Biochem Genet. 1972 Aug;7(1):73-85. No abstract available.

PMID:
5041886
18.

Adenine phosphoribosyltransferase deficiency in man. Report of a second family.

Fox IH, Meade JC, Kelley WN.

Am J Med. 1973 Nov;55(5):614-20. No abstract available.

PMID:
4749203
19.
20.

Purine base incorporation into erythrocyte nucleotides in hypoxanthine-guanine phosphoribosyltransferase deficiency.

Sperling O, Eilam G, Schmidt R, Mundel G, De Vries A.

Biochem Med. 1971 Apr;5(2):173-6. No abstract available.

PMID:
5131451

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