Infantile sialic acid storage disease (ISSD): Report of the first case detected in Poland

Pediatrics International

Volumn 45, Issue 2, 2003, Pages 199-200

  Tylki Szymańska, Anna ^a   Czartoryska, Barbara ^b   Lugowska, Agnieszka ^b   Verheijen, Frans W ^c   Mancini, Grazia M S ^c   Rokicki, Dariusz ^a   Taybert, Joanna ^a   Chmielińska, Elzbieta ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

Infantile sialic acid storage disease; Lysosomal membrane defect; Sialic acid

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; FEMALE; GENE MUTATION; HUMAN; INFANT; LABORATORY TEST; POLAND; PRIORITY JOURNAL; SIALIC ACID STORAGE DISEASE; SYMPTOMATOLOGY;

FATAL OUTCOME; FEMALE; HUMANS; INFANT; POLAND; SIALIC ACID STORAGE DISEASE;

EID: 18344397573     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200X.2003.01693.x     Document Type: Article

References (5)

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4. Aminoff D. Methods for the quantitative estimation of N-acetylneuraminic acid and their application to hydrolysates of sialimucoids Biochem. J. 1961; 81: 384-91.
5. Lemyre E, Russo P, Melancon SB, Gagne R, Potier M. Clinical spectrum of infantile free sialic acid storage disease Am. J. Hum. Genet. 1999; 82: 385-91.