Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency

Human Molecular Genetics

Volumn 9, Issue 14, 2000, Pages 2159-2165

  Race, V ^a   Marie, S ^a   Vincent, M F ^a   Van den Berghe, G ^a  

^a DE DUVE INSTITUTE   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DERIVATIVE; ADENOSINE PHOSPHATE; ADENYLOSUCCINATE LYASE; IMIDAZOLE DERIVATIVE; MUTANT PROTEIN; SUCCINIC ACID; SUCCINYLAMINOIMIDAZOLECARBOXAMIDE RIBOTIDE; THIOREDOXIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BODY FLUID; CEREBROSPINAL FLUID; CLINICAL ARTICLE; CONTROLLED STUDY; DEPHOSPHORYLATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME STABILITY; ENZYME SUBSTRATE; FIBROBLAST; HOMOZYGOSITY; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; MENTAL HEALTH; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSYCHOMOTOR RETARDATION; PURINE SYNTHESIS;

SAICA;

EID: 0034284939     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.14.2159     Document Type: Article

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