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Items: 1 to 20 of 146

1.

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.

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Purification of the lysosomal sialic acid transporter. Functional characteristics of a monocarboxylate transporter.

Havelaar AC, Mancini GM, Beerens CE, Souren RM, Verheijen FW.

J Biol Chem. 1998 Dec 18;273(51):34568-74.

4.

Glucose transport in lysosomal membrane vesicles. Kinetic demonstration of a carrier for neutral hexoses.

Mancini GM, Beerens CE, Verheijen FW.

J Biol Chem. 1990 Jul 25;265(21):12380-7.

5.

Functional reconstitution of the lysosomal sialic acid carrier into proteoliposomes.

Mancini GM, Beerens CE, Galjaard H, Verheijen FW.

Proc Natl Acad Sci U S A. 1992 Jul 15;89(14):6609-13.

6.

Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts.

Blom HJ, Andersson HC, Seppala R, Tietze F, Gahl WA.

Biochem J. 1990 Jun 15;268(3):621-5.

7.

Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease.

Tietze F, Seppala R, Renlund M, Hopwood JJ, Harper GS, Thomas GH, Gahl WA.

J Biol Chem. 1989 Sep 15;264(26):15316-22.

8.

Studies of lysosomal sialic acid metabolism: retention of sialic acid by Salla disease lysosomes.

Jonas AJ.

Biochem Biophys Res Commun. 1986 May 29;137(1):175-81.

PMID:
3718508
9.
11.

Defective lysosomal release of glycoprotein-derived sialic acid in fibroblasts from patients with sialic acid storage disease.

Mendla K, Baumkötter J, Rosenau C, Ulrich-Bott B, Cantz M.

Biochem J. 1988 Feb 15;250(1):261-7.

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14.

Disorders of lysosomal membrane transport--cystinosis and Salla disease.

Gahl WA.

Enzyme. 1987;38(1-4):154-60. Review.

PMID:
3326729
15.

Sialic acid storage disorders: observations on clinical and biochemical variation.

Mancini GM, Verheijen FW, Beerens CE, Renlund M, Aula P.

Dev Neurosci. 1991;13(4-5):327-30. Review.

PMID:
1817039
16.

Infantile sialic acid storage disease: biochemical studies.

Berra B, Gornati R, Rapelli S, Gatti R, Mancini GM, Ciana G, Bembi B.

Am J Med Genet. 1995 Jul 31;58(1):24-31.

PMID:
7573152
17.

Stearylamine permeabilizes the lysosomal membrane to cystine and sialic acid.

Jonas AJ, Speller RJ.

Biochim Biophys Acta. 1989 Sep 18;984(3):257-61.

PMID:
2775775
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