Sialic acid storage disease. [Arch Dis Child. 1990]

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1: Arch Dis Child. 1990 Mar;65(3):314-5. Links

Sialic acid storage disease.

Cameron PD, Dubowitz V, Besley GT, Fensom AH.

Hammersmith Hospital, London.

A baby girl with coarse facial features, hepatosplenomegaly, and developmental delay had raised free sialic acid concentrations in her urine and cultured fibroblasts. She died aged 13 months. Sialic acid is an important constituent of many glycoproteins and glycolipids; impaired release from the lysosome may be the underlying biochemical defect.

PMID: 2334213 [PubMed - indexed for MEDLINE]

PMCID: PMC1792249

Infantile sialic acid storage disease: biochemical studies.
Am J Med Genet. 1995 Jul 31; 58(1):24-31.

[Am J Med Genet. 1995]
Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy.
J Inherit Metab Dis. 1989; 12(2):152-6.

[J Inherit Metab Dis. 1989]
The spectrum of free neuraminic acid storage disease in childhood: clinical, morphological and biochemical observations in three non-Finnish patients.
Am J Med Genet. 1996 May 3; 63(1):203-8.

[Am J Med Genet. 1996]
ReviewInfantile sialic acid storage disease associated with renal disease.
Pediatr Neurol. 1988 Jul-Aug; 4(4):207-12.

[Pediatr Neurol. 1988]
ReviewInfantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients.
Pediatr Pathol Lab Med. 1995 May-Jun; 15(3):443-53.

[Pediatr Pathol Lab Med. 1995]
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Cited by 2 PubMed Central articles

Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.
Schleutker J, Leppänen P, Månsson JE, Erikson A, Weissenbach J, Peltonen L, Aula P. Am J Hum Genet. 1995 Oct; 57(4):893-901.

[Am J Hum Genet. 1995]
Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.
Mancini GM, Beerens CE, Aula PP, Verheijen FW. J Clin Invest. 1991 Apr; 87(4):1329-35.

[J Clin Invest. 1991]

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