The spectrum of free neuraminic acid storage disease in childhood: Clinical, morphological and biochemical observations in three non-Finnish patients

American Journal of Medical Genetics

Volumn 63, Issue 1, 1996, Pages 203-208

  Sewell, Adrian C ^a,f   Poets, Christian F ^b   Degen, Ingrid ^c   Stöß, Hartmut ^d   Pontz, Bertram F ^e  

^a GOETHE UNIVERSITY   (Germany)

^b LEIBNIZ UNIVERSITY HANNOVER   (Germany)

^c Military Hospital Koblenz   (Germany)

^d Institute of Pathology   (Germany)

^e TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^f UNIVERSITY HOSPITAL FRANKFURT   (Germany)

Author keywords

lysosomal disease; Salla disease; sialic acid; variability

Indexed keywords

N ACETYLNEURAMINIC ACID; SIALIC ACID;

ADOLESCENT; ARTICLE; ASCITES; ATAXIA; CASE REPORT; CELL VACUOLE; CHILD; COARSE FACE; DYSARTHRIA; FATALITY; FEMALE; HEPATOSPLENOMEGALY; HUMAN; HUMAN TISSUE; ILIAC CREST; INFANT; KYPHOSCOLIOSIS; LYSOSOME STORAGE DISEASE; MALE; MUSCLE HYPOTONIA; PREMATURITY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RESPIRATORY FAILURE; SCANTY HAIR; SKIN FIBROBLAST;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CELLS, CULTURED; EGYPT; FATAL OUTCOME; FEMALE; FIBROBLASTS; FINLAND; FOLLOW-UP STUDIES; HUMANS; INFANT; INFANT, NEWBORN; INFANT, PREMATURE; LYMPHOCYTES; LYSOSOMAL STORAGE DISEASES; MALE; N-ACETYLNEURAMINIC ACID; SIALIC ACIDS; SKIN;

EID: 0029967645     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<203::AID-AJMG36>3.0.CO;2-Q     Document Type: Article

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