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Phosphoribosylpyrophosphate synthetase
LE WE PMID CA
Phosphoribosylpyrophosphate synthetase7134Phosphoribosylpyrophosphat Synthetase

Adenine phosphoribosyl transferase

Arts syndrome

Charcot Marie Tooth disease

Cystinosis

Cystinuria

Deafness (Inherited)

Fanconi s syndrome

Fructose intolerance

Lesch Nyhan syndrome

Mitochondria (Mitochondriopathy)

Nephrolithiasis

Oxalosis

Phosphoribosylpyrophosphate synthetase

Tyrosinemia

Wilson s disease

Xanthine

2010  
1
PRPS1 mutations: four distinct syndromes and potential treatment.
[20380929] Am J Hum Genet 86(4): 506-18 (2010)
2010  
2
Nephrolithiasis related to inborn metabolic diseases.
[19156444] Pediatr Nephrol 25(3): 415-24 (2010)

Downloaded from http://www.kidney.de - The Database of Free Medical Reviews - The Metatextbook of Medicine - Ossip Groth

All Medline data shown were primarily retrieved from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.


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