Early Diagnosis Of Adenylosuccinate Lyase Deficiency Using A High-Throughput Screening Method And A Trial Of Oral S-Adenosyl-L-Methionine As A Treatment Method

Developmental Medicine and Child Neurology

Volumn 55, Issue 11, 2013, Pages 1060-1064

  van Werkhoven, Michiel A ^a   Duley, John A ^b   Mcgown, Ivan ^c   Munce, Teresa ^c   Freeman, Jeremy L ^a   Pitt, James J ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b MATER MEDICAL RESEARCH INSTITUTE   (Australia)

^c MATER HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; ADENYLOSUCCINATE LYASE; PREDNISOLONE; S ADENOSYLMETHIONINE; SUCCINYLADENOSINE; UNCLASSIFIED DRUG; VALPROIC ACID; VIGABATRIN;

ADENYLOSUCCINATE LYASE DEFICIENCY; ADSL GENE; ARTICLE; CASE REPORT; CLINICAL FEATURE; DRUG MEGADOSE; EARLY DIAGNOSIS; ELECTROENCEPHALOGRAPHY; ELECTROSPRAY MASS SPECTROMETRY; ENZYME DEFICIENCY; GENE; GENE SEQUENCE; GENOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HIGH THROUGHPUT SCREENING; HUMAN; INFANT; LIQUID CHROMATOGRAPHY; MALE; MASS SPECTROMETRY; MONOTHERAPY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEIZURE; TREATMENT RESPONSE; URINALYSIS; URINE LEVEL;

ADENOSINE; ADENYLOSUCCINATE LYASE; ADMINISTRATION, ORAL; CHILD, PRESCHOOL; CHROMATOGRAPHY, LIQUID; ELECTROENCEPHALOGRAPHY; GENOTYPE; HIGH-THROUGHPUT SCREENING ASSAYS; HUMANS; LONGITUDINAL STUDIES; MALE; MUTATION; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; S-ADENOSYLMETHIONINE; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION;

EID: 84885174885     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/dmcn.12244     Document Type: Article

References (23)

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