Adenylosuccinate lyase deficiency

Journal of Inherited Metabolic Disease

Volumn 38, Issue 2, 2015, Pages 231-242

  Jurecka, Agnieszka ^a   Zikanova, Marie ^b   Kmoch, Stanislav ^b   Tylki Szymańska, Anna ^c  

^a UNIVERSITY OF GDA SK   (Poland)

^b Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^c CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLOSUCCINATE LYASE;

ANIMAL; AUTISTIC DISORDER; DEFICIENCY; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; ENZYMOLOGY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HUMAN; MUTATION; PHENOTYPE; PREDICTIVE VALUE; PROGNOSIS; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; RISK FACTOR;

ADENYLOSUCCINATE LYASE; ANIMALS; AUTISTIC DISORDER; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MUTATION; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PROGNOSIS; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; RISK FACTORS;

EID: 84937251472     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9755-y     Document Type: Review

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