Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency

Journal of Child Neurology

Volumn 27, Issue 5, 2012, Pages 645-649

  Jurecka, Agnieszka ^a,b   Opoka Winiarska, Violetta ^c   Rokicki, Dariusz ^a   Tylki Szymałska, Anna ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b Department of Molecular Biology   (Poland)

^c MEDICAL UNIVERSITY OF LUBLIN   (Poland)

Author keywords

adenylosuccinate lyase deficiency; epilepsy; ketogenic diet

Indexed keywords

ADENYLOSUCCINATE LYASE; DIAZEPAM; PHENOBARBITAL; TETRACOSACTIDE; VALPROIC ACID; VIGABATRIN;

ANXIETY; APGAR SCORE; ARTICLE; BLOOD CELL; BRAIN DISEASE; CASE REPORT; CEREBELLUM ATROPHY; CHILD; CLINICAL TRIAL (TOPIC); CYANOSIS; DEMYELINATION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAPHY; ENZYME DEFICIENCY; FANCONI RENOTUBULAR SYNDROME; FEMALE; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOSPITAL DISCHARGE; HUMAN; HYPERCHLOREMIC ACIDOSIS; INFANT; INTRACTABLE EPILEPSY; KETOGENIC DIET; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPOTONIA; MUSCLE SPASM; MYOCLONUS; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPISTHOTONUS; PRESCHOOL CHILD; PRIORITY JOURNAL; QUADRIPLEGIA; RESPIRATORY DISTRESS; SCHOOL CHILD; SEIZURE; SYLVIAN FISSURE; TONIC CLONIC SEIZURE; TREMOR;

ADENYLOSUCCINATE LYASE; CHILD; EPILEPSY; FEMALE; HUMANS; KETOGENIC DIET; LONGITUDINAL STUDIES; MAGNETIC RESONANCE IMAGING; MUTATION; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS;

EID: 84860265545     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811424465     Document Type: Article

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