Mannosidosis: Phenotype of a severely affected child and characterization of α-mannosidase activity in cultured fibroblasts from the patient and his parents

Arthur S. Aylsworth, Harold A. Taylor, Carole M. Stuart, George H. Thomas

Research output: Contribution to journalArticle

Abstract

A three-year-old boy has coarse facial features, upper respiratory congestion, profound mental retardation, hepatosplenomegaly, increased height and head circumference, cataracts, a gibbus deformity, radiographic changes of dysostosis multiplex, and vacuolized peripheral lymphocytes. These findings are the most commonly reported clinical features in the previously described patients with mannosidosis. Our patient has a severe deficiency, and his parents have intermediate levels, of the acidic component of α-mannosidase in their cultured fibroblasts.

Original languageEnglish (US)
Pages (from-to)814-818
Number of pages5
JournalJournal of Pediatrics
Volume88
Issue number5
DOIs
StatePublished - 1976

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Mannosidase Deficiency Diseases
Mannosidases
Fibroblasts
Parents
Dysostoses
Phenotype
Intellectual Disability
Cataract
Head
Lymphocytes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Mannosidosis : Phenotype of a severely affected child and characterization of α-mannosidase activity in cultured fibroblasts from the patient and his parents. / Aylsworth, Arthur S.; Taylor, Harold A.; Stuart, Carole M.; Thomas, George H.

In: Journal of Pediatrics, Vol. 88, No. 5, 1976, p. 814-818.

Research output: Contribution to journalArticle

Aylsworth, Arthur S. ; Taylor, Harold A. ; Stuart, Carole M. ; Thomas, George H. / Mannosidosis : Phenotype of a severely affected child and characterization of α-mannosidase activity in cultured fibroblasts from the patient and his parents. In: Journal of Pediatrics. 1976 ; Vol. 88, No. 5. pp. 814-818.
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