Found: 6
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Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent renal stone disease in kidney transplantation.
- Published in:
- NDT Plus, 2010, v. 3, n. 5, p. 436, doi. 10.1093/ndtplus/sfq096
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- Article
NAD metabolism in HPRT-deficient mice.
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- Metabolic Brain Disease, 2009, v. 24, n. 2, p. 311
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- Article
Adenosine Deaminase (ADA) Deficiency: Report of Six New Cases and Reappraisal of Cutaneous Hypermelanosis as an Early Feature.
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- Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1618, doi. 10.1007/s10875-022-01337-y
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- Article
Identification of the Nucleotidase Responsible for the AMP Hydrolysing Hyperactivity Associated with Neurological and Developmental Disorders.
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- Neurochemical Research, 2008, v. 33, n. 1, p. 59, doi. 10.1007/s11064-007-9407-9
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- Article
Inhibiting PNP for the therapy of hyperuricemia in Lesch–Nyhan disease: Preliminary in vitro studies with analogues of immucillin‐G.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 178, doi. 10.1002/jimd.12039
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- Article
Urate nephropathy associated with impaired kinetic properties of hypoxanthine phosphoribosyl transferase in a 45-day-old infant.
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- Clinical & Experimental Nephrology, 2012, v. 16, n. 1, p. 164, doi. 10.1007/s10157-011-0536-8
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- Article