Adenylsuccinate lyase deficiency - Diagnostics and clinical characterization of 7 Polish patients;Deficyt liazy adenylobursztynianowej - Diagnostyka i charakterystyka kliniczna 7 polskich pacjentów

Pediatria Polska

Volumn 82, Issue 7, 2007, Pages 526-532

  Jurecka, Agnieszka ^a   Tylki Szymańska, Anna ^a   Bogdańska, Anna ^a   Kmieć, Tomasz ^a   Mierzewska, Hanna ^a   Pohorecka, Monika ^a   Słomińska, Ewa ^b   Smoleński, Ryszard ^b   Sykut Cegielska, Jolanta ^a   Taybert, Joanna ^a   Pronicka, Ewa ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b SUM W Katowicach   (Poland)

Author keywords

Adenylosuccinate lyase; Epileptic encephalopathy; Psychomotor retardation with autistic features; Purine metabolism; SAICA riboside; Succinyladenosine

Indexed keywords

ADENYLOSUCCINATE LYASE;

ADENYLOSUCCINATE LYASE DEFICIENCY; ARTICLE; AUTISM; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE SEVERITY; ENZYME DEFICIENCY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INBORN ERROR OF METABOLISM; INFANT; INFANTILE EPILEPTIC ENCEPHALOPATHY; MENTAL DEFICIENCY; POLAND; PRESCHOOL CHILD; PROTON NUCLEAR MAGNETIC RESONANCE; PSYCHOMOTOR RETARDATION; SCREENING TEST; SEIZURE; SYMPTOM; THIN LAYER CHROMATOGRAPHY;

EID: 34447515741     PISSN: 00313939     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0031-3939(07)70368-2     Document Type: Article

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