First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia

Pediatric Neurology

Volumn 16, Issue 3, 1997, Pages 252-255

  Valik, Dalibor ^a,b   Miner, Philip T ^c,d   Jones, James D ^b  

^a UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^b MAYO CLINIC   (United States)

^c MEDICAL CENTER OF CENTRAL GEORGIA   (United States)

^d MERCER UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DERIVATIVE; ADENYLOSUCCINATE LYASE; NUCLEOSIDE DERIVATIVE; SUCCINYLADENOSINE; SUCCINYLAMINOIMIDAZOLE CARBOXAMIDE RIBOSIDE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; HUMAN; INFANTILE HYPOTONIA; MOTOR DYSFUNCTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN FIBROBLAST; THIN LAYER CHROMATOGRAPHY;

EID: 0030973507     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(97)89979-1     Document Type: Article

References (11)

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