J Pediatr. 1976 May;88(5):814-8.

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

Aylsworth AS, Taylor HA, Stuart CM, Thomas GH.

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 alpha-mannosidase in their cultured fibroblasts.

PMID:: 5584; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Full Text Sources

EBSCO

Supplemental Content

Save items

Related citations in PubMed

Mannosidosis: deficiency of a specific alpha-mannosidase component in cultured fibroblasts. [Clin Chim Acta. 1975]
Mannosidosis: deficiency of a specific alpha-mannosidase component in cultured fibroblasts.
Taylor HA, Thomas GH, Aylsworth A, Stevenson RE, Reynolds LW. Clin Chim Acta. 1975 Feb 22; 59(1):93-9.
Clinical manifestations of mannosidosis--a longitudinal study. [Am J Med. 1976]
Clinical manifestations of mannosidosis--a longitudinal study.
Yunis JJ, Lewandowski RC Jr, Sanfilippo SJ, Tsai MY, Foni I, Bruhl HH. Am J Med. 1976 Dec; 61(6):841-8.
Unusual clinical and ultrastructural features in a boy with biochemically typical mannosidosis. [Acta Paediatr Scand. 1980]
Unusual clinical and ultrastructural features in a boy with biochemically typical mannosidosis.
Gordon BA, Carson R, Haust MD. Acta Paediatr Scand. 1980 Nov; 69(6):787-92.
Review Human beta-mannosidase deficiency associated with peripheral neuropathy. [Ann Neurol. 1994]
Review Human beta-mannosidase deficiency associated with peripheral neuropathy.
Levade T, Graber D, Flurin V, Delisle MB, Pieraggi MT, Testut MF, Carrière JP, Salvayre R. Ann Neurol. 1994 Jan; 35(1):116-9.
Review Recent progress in lysosomal alpha-mannosidase and its deficiency. [Exp Mol Med. 2001]
Review Recent progress in lysosomal alpha-mannosidase and its deficiency.
Sun H, Wolfe JH. Exp Mol Med. 2001 Mar 31; 33(1):1-7.

See reviews... See all...

Cited by 3 PubMed Central articles

Review Alpha-mannosidosis. [Orphanet J Rare Dis. 2008]
Review Alpha-mannosidosis.
Malm D, Nilssen Ø. Orphanet J Rare Dis. 2008 Jul 23; 3:21. Epub 2008 Jul 23.
Spectrum of mutations in alpha-mannosidosis. [Am J Hum Genet. 1999]
Spectrum of mutations in alpha-mannosidosis.
Berg T, Riise HM, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK, Nilssen O. Am J Hum Genet. 1999 Jan; 64(1):77-88.
Bone marrow transplantation in the treatment of alpha-mannosidosis. [Arch Dis Child. 1987]
Bone marrow transplantation in the treatment of alpha-mannosidosis.
Will A, Cooper A, Hatton C, Sardharwalla IB, Evans DI, Stevens RF. Arch Dis Child. 1987 Oct; 62(10):1044-9.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

Mannosidosis: phenotype of a severely affected child and characterization of alp...
Mannosidosis: phenotype of a severely affected child and characterization of alpha-mannosidase activity in cultured fibroblasts from the patient and his parents.
J Pediatr. 1976 May ;88(5):814-8.

PubMed
Chlorpromazine in women with chronic schizophrenia: the effect on cholesterol le...
Chlorpromazine in women with chronic schizophrenia: the effect on cholesterol levels and cholesterol-behavior relationships.
Psychosom Med. 1967 Nov-Dec ;29(6):634-42.

PubMed
Studies on milk yield and composition of the West African dwarf goat in Nigeria.
Studies on milk yield and composition of the West African dwarf goat in Nigeria.
J Dairy Res. 1977 Feb ;44(1):57-62.

PubMed
Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for ...
Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease.
Am J Hum Genet. 1971 Jan ;23(1):62-6.

PubMed
[Biokinetic characterization of human glycerin utilization].
[Biokinetic characterization of human glycerin utilization].
Infusionsther Klin Ernahr. 1977 Apr ;4(2):68-70.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

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

Abstract

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Supplemental Content

Save items

Related citations in PubMed

Cited by 3 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information