Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Chen, Bee Chin ^a   McGown, Ivan N ^b   Thong, Meow Keong ^c   Pitt, James ^d   Yunus, Zabedah M ^e   Khoo, Teck Beng ^f   Ngu, Lock Hock ^a   Duley, John A ^b,g  

^a HOSPITAL KUALA LUMPUR   (Malaysia)

^b MATER HOSPITAL   (Australia)

^c UNIVERSITY OF MALAYA   (Malaysia)

^d MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^e INSTITUTE FOR MEDICAL RESEARCH   (Malaysia)

^f Division of Pediatric Neurology   (Malaysia)

^g UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

5 AMINO 4 IMIDAZOLECARBOXAMIDE; ADENOSINE; ADENOSINE PHOSPHATE; ADENYLOSUCCINATE LYASE; ADENYLOSUCCINIC ACID; BIOLOGICAL MARKER; DRUG DERIVATIVE; RIBONUCLEOSIDE; SUCCINYLADENOSINE; SUCCINYLAMINOIMIDAZOLE CARBOXAMIDE RIBOSIDE; ADENYLOSUCCINATE;

ADENYLOSUCCINATE LYASE DEFICIENCY; ARTICLE; CASE REPORT; CHILD DEVELOPMENT; DISORDERS OF PURINE AND PYRIMIDINE METABOLISM; ELECTROSPRAY MASS SPECTROMETRY; ENZYMOLOGY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INFANT; MALAYSIA; MALE; METHODOLOGY; MUTATION; MYOCLONUS; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREDICTIVE VALUE; PSYCHOMOTOR DISORDER; PSYCHOMOTOR PERFORMANCE; SEIZURE; TANDEM MASS SPECTROMETRY; URINE; ANALOGS AND DERIVATIVES; COMPLICATION; DEFICIENCY; PROCEDURES; PSYCHOMOTOR DISORDERS; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; SEIZURES;

ADENOSINE; ADENOSINE MONOPHOSPHATE; ADENYLOSUCCINATE LYASE; AMINOIMIDAZOLE CARBOXAMIDE; BIOLOGICAL MARKERS; CHILD DEVELOPMENT; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALAYSIA; MALE; MUTATION; MYOCLONUS; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PSYCHOMOTOR DISORDERS; PSYCHOMOTOR PERFORMANCE; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; RIBONUCLEOSIDES; SEIZURES; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TANDEM MASS SPECTROMETRY;

EID: 84897925347     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9056-z     Document Type: Article

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