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Article

A Brazilian galactosialidosis patient given renal transplantation: a case report.

Journal of inherited metabolic disease - 1 Dec 2008

Kiss A, Zen P R G, Bittencourt V, Paskulin G A, Giugliani R, d'Azzo A, Schwartz I V

Abstract excerpt

We report a Brazilian girl who was diagnosed as having galactosialidosis (deficiency of protective protein/cathepsin A; PPCA deficiency; GS) at the age of 2 years 6 months during an extensive investigation for renal failure. She was found to have low levels of both β-galactosidase and α-neuraminidase in fibroblasts and to be a carrier of two novel mutations in the PPGB gene (p.G57V and p.R396W). She received a...

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Identifiers

PMID: 18937050
DOI: 10.1007/s10545-008-0730-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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