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Article

Sisters with alpha-mannosidosis and systemic lupus erythematosus.

European journal of pediatrics - 1 Apr 2004

Urushihara Maki, Kagami Shoji, Yasutomo Koji, Ito Michinori, Kondo Shuji, Kitamura Akiko, Malm Dag, Klenow Helle, Nilssen Oivind, Kuroda Yasuhiro

Abstract excerpt

UNLABELLED: Alpha-mannosidosis is an autosomal recessive disorder caused by deficiency of lysosomal alpha-mannosidase (LAMAN). Here, we report two sisters with alpha-mannosidosis who developed systemic lupus erythematosus (SLE). The sisters were both homozygous for a one bp deletion within the LAMAN gene resulting in a truncated gene product. The coincidence of alpha-mannosidosis and SLE are discussed with regard...

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Identifiers

PMID: 14760529
DOI: 10.1007/s00431-004-1404-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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