A FAMILY OF HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE DEFICIENCY WITHOUT NEUROLOGICAL DISORDERS

Nihon Naika Gakkai Zasshi ◽

10.2169/naika.64.38 ◽

1975 ◽

Vol 64 (1) ◽

pp. 38-43

Author(s):

Teruhiko TOYO-OKA ◽

Ieo AKAOKA ◽

Tsuneo NISHIZAWA ◽

Takashi YOSHIMURA ◽

Yutaro NISHIDA ◽

...

Keyword(s):

Neurological Disorders ◽

Phosphoribosyl Transferase ◽

Transferase Deficiency ◽

Hypoxanthine Guanine Phosphoribosyl Transferase

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Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy.

Archives of Disease in Childhood ◽

10.1136/adc.58.10.831 ◽

1983 ◽

Vol 58 (10) ◽

pp. 831-833 ◽

Author(s):

P C Holland ◽

M J Dillon ◽

J Pincott ◽

H A Simmonds ◽

T M Barratt

Keyword(s):

Renal Failure ◽

Phosphoribosyl Transferase ◽

Transferase Deficiency ◽

Hypoxanthine Guanine Phosphoribosyl Transferase

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Adenine nucleotide turnover in hypoxanthine-guanine phosphoribosyl-transferase deficiency: Evidence for an increased contribution purine biosynthesis de novo

10.1016/0026-0495(89)90189-3 ◽

1989 ◽

Vol 38 (5) ◽

pp. 410-418 ◽

Author(s):

Juan G. Puig ◽

Manuel L. Jiménez ◽

Felicitas A. Mateos ◽

Irving H. Fox

Keyword(s):

De Novo ◽

Adenine Nucleotide ◽

Purine Biosynthesis ◽

Phosphoribosyl Transferase ◽

Transferase Deficiency ◽

Hypoxanthine Guanine Phosphoribosyl Transferase

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Studies on hair roots for carrier detection in hypoxanthine-guanine phosphoribosyl transferase deficiency

Clinical Genetics ◽

10.1111/j.1399-0004.1974.tb01718.x ◽

2008 ◽

Vol 5 (5) ◽

pp. 449-456 ◽

Author(s):

C. H. M. M. Bruyn ◽

T. L. Oei ◽

B. G. A. Haar

Keyword(s):

Carrier Detection ◽

Phosphoribosyl Transferase ◽

Transferase Deficiency ◽

Hypoxanthine Guanine Phosphoribosyl Transferase

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Addendum to report of partial hypoxanthine-guanine phosphoribosyl transferase deficiency

The Journal of Pediatrics ◽

10.1016/s0022-3476(05)80459-7 ◽

1992 ◽

Vol 120 (2) ◽

pp. 331 ◽

Author(s):

Ira M. Rosenthal ◽

John B. Coleman

Keyword(s):

Phosphoribosyl Transferase ◽

Transferase Deficiency ◽

Hypoxanthine Guanine Phosphoribosyl Transferase

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A case of severe hypoxanthine-guanine phosphoribosyl transferase deficiency

Journal of Inherited Metabolic Disease ◽

10.1007/bf01801670 ◽

1985 ◽

Vol 8 (2) ◽

pp. 79-79 ◽

Author(s):

T. Žanić ◽

V. Gamulin ◽

K. Lipovac

Keyword(s):

Phosphoribosyl Transferase ◽

Transferase Deficiency ◽

Hypoxanthine Guanine Phosphoribosyl Transferase

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Effects of the uricogenic agent, 2-ethylamino-1,3,4-thiadiazole in hypoxanthine-guanine phosphoribosyl transferase deficiency

10.1016/0026-0495(68)90149-2 ◽

1968 ◽

Vol 17 (10) ◽

pp. 846-853 ◽

Author(s):

William L. Nyhan ◽

Lawrence Sweetman ◽

Michael Lesch

Keyword(s):

Phosphoribosyl Transferase ◽

Transferase Deficiency ◽

Hypoxanthine Guanine Phosphoribosyl Transferase

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Failure to thrive, hyperuricemia, and renal insufficiency in early infancy secondary to partial hypoxanthine-guanine phosphoribosyl transferase deficiency

The Journal of Pediatrics ◽

10.1016/s0022-3476(84)80600-9 ◽

1984 ◽

Vol 104 (1) ◽

pp. 94-97 ◽

Author(s):

William B. Lorentz ◽

Barbara K. Burton ◽

Alberto Trillo ◽

Marc C. Browning

Keyword(s):

Renal Insufficiency ◽

Failure To Thrive ◽

Early Infancy ◽

Phosphoribosyl Transferase ◽

Transferase Deficiency ◽

Hypoxanthine Guanine Phosphoribosyl Transferase

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X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Detection of heterozygotes by selective medium

Biochemical Genetics ◽

10.1007/bf00485754 ◽

1970 ◽

Vol 4 (3) ◽

pp. 377-383 ◽

Author(s):

Barbara Ruben Migeon

Keyword(s):

Selective Medium ◽

Phosphoribosyl Transferase ◽

Transferase Deficiency ◽

Hypoxanthine Guanine Phosphoribosyl Transferase

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Gouty Synovitis of the Knee with Partial Hypoxanthine-guanine Phosphoribosyl Transferase Deficiency (Kelley-Seegmiller Syndrome): A Case Report

Journal of Rural Medicine ◽

10.2185/jrm.4.80 ◽

2009 ◽

Vol 4 (2) ◽

pp. 80-83

Author(s):

Tsuyoshi Ohishi ◽

Tetsuya Ichikawa ◽

Michihito Miyagi ◽

Hiroshi Irisawa ◽

Akira Nagano

Keyword(s):

Case Report ◽

Phosphoribosyl Transferase ◽

Transferase Deficiency ◽

Hypoxanthine Guanine Phosphoribosyl Transferase

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X-Linked Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency: Heterozygote Has Two Clonal Populations

Science ◽

10.1126/science.160.3826.425 ◽

1968 ◽

Vol 160 (3826) ◽

pp. 425-427 ◽

Author(s):

B. R. Migeon ◽

V. M. D. Kaloustian ◽

W. L. Nyhan ◽

W. J. Young ◽

B. Childs

Keyword(s):

Phosphoribosyl Transferase ◽

Transferase Deficiency ◽

Hypoxanthine Guanine Phosphoribosyl Transferase

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