Human beta-mannosidase deficiency
- PMID: 2945113
- DOI: 10.1056/NEJM198611063151906
Human beta-mannosidase deficiency
Similar articles
-
Human beta-mannosidase deficiency.N Engl J Med. 1986 Nov 6;315(19):1231. N Engl J Med. 1986. PMID: 3762648 No abstract available.
-
beta-mannosidase deficiency in a female infant with epileptic encephalopathy.J Inherit Metab Dis. 1991;14(1):18-22. doi: 10.1007/BF01804383. J Inherit Metab Dis. 1991. PMID: 1861456
-
Quantitative analysis of disaccharides in the urine of beta-mannosidosis patients.J Inherit Metab Dis. 1990;13(2):187-94. doi: 10.1007/BF01799685. J Inherit Metab Dis. 1990. PMID: 2116550
-
Human beta-mannosidase deficiency associated with peripheral neuropathy.Ann Neurol. 1994 Jan;35(1):116-9. doi: 10.1002/ana.410350119. Ann Neurol. 1994. PMID: 8285582 Review.
-
[Beta-mannosidosis].Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):458-9. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9645109 Review. Japanese. No abstract available.
Cited by
-
β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA.Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3):a003954. doi: 10.1101/mcs.a003954. Print 2019 Jun. Cold Spring Harb Mol Case Stud. 2019. PMID: 30886116 Free PMC article.
-
Bovine kidney beta-mannosidase: purification and characterization.Biochem J. 1993 Jan 15;289 ( Pt 2)(Pt 2):343-7. doi: 10.1042/bj2890343. Biochem J. 1993. PMID: 8424779 Free PMC article.
-
Animal model of human disease. Bovine beta-mannosidosis.Am J Pathol. 1993 Mar;142(3):957-60. Am J Pathol. 1993. PMID: 8456950 Free PMC article. No abstract available.
-
Estimation of genotype distributions and posterior genotype probabilities for beta-mannosidosis in Salers cattle.Genetics. 1993 Nov;135(3):855-68. doi: 10.1093/genetics/135.3.855. Genetics. 1993. PMID: 8293984 Free PMC article.
-
A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus.JIMD Rep. 2013;11:93-7. doi: 10.1007/8904_2013_227. Epub 2013 Apr 16. JIMD Rep. 2013. PMID: 23588843 Free PMC article.
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources