Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency - MRI, clinical, biochemical and neuropathological findings of Polish patients

Folia Neuropathologica

Volumn 47, Issue 4, 2009, Pages 314-320

  Mierzewska, Hanna ^a   Schmidt Sidor, Bogna ^b   Jurkiewicz, Elzbieta ^c   Bogdańska, Anna ^c   Kuśmierska, Katarzyna ^c   Stȩpień, Tomasz ^b  

^a INSTITUTE OF MOTHER AND CHILD   (Poland)

^b INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^c CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

Adenylosuccinate lyase deficiency; Hypomyelination; MRI; Purine biosynthesis

Indexed keywords

ADENYLOSUCCINATE LYASE; SUCCINYLADENOSINE; SUCCINYLAMINOIMIDAZOLE CARBOXAMIDE RIBOTIDE; UNCLASSIFIED DRUG;

ADENYLOSUCCINATE LYASE DEFICIENCY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOCHEMISTRY; BRAIN ATROPHY; BRAIN DISEASE; CELL DAMAGE; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONTROLLED STUDY; EPILEPSY; HUMAN; INFANT; MUSCLE HYPOTONIA; MYELIN DEFICIENCY; MYELINATION; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; POLAND; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SPASTICITY; URINALYSIS;

EID: 75149165175     PISSN: 16414640     EISSN: 1509572X     Source Type: Journal    
DOI: None     Document Type: Article

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