Inborn errors of purine and pyrimidine metabolism

Journal of Inherited Metabolic Disease

Volumn 32, Issue 2, 2009, Pages 247-263

  Jurecka, A ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE; ADENYLOSUCCINATE LYASE; BETA ALANINE; BOTULINUM TOXIN A; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; RIBOSE; URIC ACID;

ADENOSINE DEAMINASE DEFICIENCY; ADENYLOSUCCINATE LYASE DEFICIENCY; ARTICLE; BONE MARROW TRANSPLANTATION; CLINICAL FEATURE; CLINICAL TRIAL; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; DISORDERS OF PURINE AND PYRIMIDINE METABOLISM; DRUG EFFICACY; ENZYME DEFICIENCY; ENZYME REPLACEMENT; GENETIC COUNSELING; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; MOLECULAR BIOLOGY; NONHUMAN; PATHOPHYSIOLOGY; POLAND; PREVALENCE; TANDEM MASS SPECTROMETRY; TREATMENT PLANNING; UNSPECIFIED SIDE EFFECT; UREIDOPROPIONASE DEFICIENCY; URIC ACID BLOOD LEVEL;

BRAIN; GENETIC SCREENING; HUMANS; POLAND; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; PURINES; PYRIMIDINES;

EID: 64449088850     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1094-z     Document Type: Article

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