Adenylosuccinate lyase deficiency

Molecular Genetics and Metabolism

Volumn 89, Issue 1-2, 2006, Pages 19-31

  Spiegel, Erin K ^a,b   Colman, Roberta F ^c   Patterson, David ^a,b  

^a UNIVERSITY OF DENVER   (United States)

^b UNIVERSITY OF COLORADO   (United States)

^c UNIVERSITY OF DELAWARE   (United States)

Author keywords

Autism; Enzyme; Psychomotor retardation; Purine biosynthesis; Succinylpurines

Indexed keywords

ADENYLOSUCCINATE LYASE; AMINO ACID; PURINE; PURINE NUCLEOTIDE;

ADENYLOSUCCINATE LYASE DEFICIENCY; AUTISM; BACILLUS SUBTILIS; BIOACCUMULATION; CELL METABOLISM; CHEMICAL ANALYSIS; CHEMICAL LABELING; CHROMOSOME 22Q; CHROMOSOME MAP; DISEASE ASSOCIATION; DISEASE SEVERITY; EMBRYO DEVELOPMENT; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXPERIMENTAL MOUSE; GENE MAPPING; GENE MUTATION; GENETIC CORRELATION; HETEROZYGOTE; HUMAN; IN VIVO STUDY; KNOCKOUT MOUSE; METABOLIC DISORDER; MOLECULAR CLONING; MUSCLE HYPOTONIA; NEUROTOXICITY; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN STRUCTURE; PSYCHOMOTOR RETARDATION; PURINE METABOLISM; PURINE SYNTHESIS; REVIEW; SEIZURE; SITE DIRECTED MUTAGENESIS; SYMPTOMATOLOGY; TRANSGENIC MOUSE;

ADENYLOSUCCINATE LYASE; ANIMALS; DISEASE MODELS, ANIMAL; HUMANS; MICE; MUTATION; PROTEIN CONFORMATION; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS;

EID: 33746948836     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.04.018     Document Type: Review

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