Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency

Folia Neuropathologica

Volumn 46, Issue 1, 2008, Pages 81-91

  Mierzewska, Hanna ^a,b   Schmidt Sidor, Bogna ^c   Lewandowska, Eliza ^c   Grajkowska, Wiesława ^a   Kuśmierska, Katarzyna ^a   Jurkiewicz, Elzbieta ^a   Stepień, Tomasz ^c   Rafałowska, Janina ^d  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b INSTITUTE OF MOTHER AND CHILD   (Poland)

^c INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^d POLISH ACADEMY OF SCIENCES   (Poland)

Author keywords

Adenylosuccinase deficiency; Hypo dysmyelination myelin destruction; Microcystic encephalopathy; Neuropathobgy; Newborn

Indexed keywords

ADENOSINE DERIVATIVE; NUCLEOTIDE; SUCCINYLADENOSINE; SUCCINYLAMINOIMIDAZOLE CARBOXAMIDE RIBOSIDE; UNCLASSIFIED DRUG;

ADENYLOSUCCINATE LYASE DEFICIENCY; ALLELE; APNEA; ARTICLE; BRAIN ATROPHY; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CEREBROSPINAL FLUID LEVEL; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; ENZYME DEFICIENCY; FATALITY; FEMALE; FUNCTIONAL MAGNETIC RESONANCE IMAGING; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; MUSCLE HYPOTONIA; MYELIN DEFICIENCY; NERVE CELL LESION; NEUROPATHOLOGY; PROGRESSIVE CORTICOSUBCORTICAL ATROPHY; TONIC CLONIC SEIZURE; WHITE MATTER;

EID: 42449121365     PISSN: 16414640     EISSN: 1509572X     Source Type: Journal    
DOI: None     Document Type: Article

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