doi: 10.1056/NEJM197111042851922.
"I-cell" disease: leakage of lysosomal enzymes into extracellular fluids
- PMID: 4328711
- DOI: 10.1056/NEJM197111042851922
Item in Clipboard
"I-cell" disease: leakage of lysosomal enzymes into extracellular fluids
N Engl J Med.
.
No abstract available
Similar articles
-
Studies on the pathogenetic mechanism of I-cell disease in cultured fibroblasts.Pediatr Res. 1974 Nov;8(11):865-9. doi: 10.1203/00006450-197411000-00002. Pediatr Res. 1974. PMID: 4374680 No abstract available.
-
Elevated activity of lysosomal enzymes in amniotic fluid of a fetus with mucolipidosis II (I-cell disease).Clin Chim Acta. 1973 Mar 30;44(3):453-5. doi: 10.1016/0009-8981(73)90092-2. Clin Chim Acta. 1973. PMID: 4694487 No abstract available.
-
Lymphotic inclusions in I-cell disease.J Pediatr. 1974 Jul;85(1):88-90. doi: 10.1016/s0022-3476(74)80294-5. J Pediatr. 1974. PMID: 4368882 No abstract available.
-
[Enzyme deficiencies detected on cultured fibroblasts and amniotic cells. Application to prenatal diagnosis].Ann Biol Clin (Paris). 1975;33(6):465-72. Ann Biol Clin (Paris). 1975. PMID: 818927 Review. French.
-
[Neuroepidemiology of metabolism inborn errors: diseases of lysosomal origin].An Esp Pediatr. 1988 Sep;29 Suppl 33:48-51. An Esp Pediatr. 1988. PMID: 3074716 Review. Spanish. No abstract available.
Cited by
-
Lysosomal acid hydrolases in established lymphoblastoid cell lines, transformed by Epstein-Barr virus, from patients with genetic lysosomal storage diseases.Hum Genet. 1978 Oct 19;44(1):79-87. doi: 10.1007/BF00283577. Hum Genet. 1978. PMID: 213379
-
Multiple molecular forms of lysosomal enzymes in mucolipidosis II.Hum Genet. 1981;58(3):317-21. doi: 10.1007/BF00294931. Hum Genet. 1981. PMID: 7327554 No abstract available.
-
Evidence for specific recognition sites mediating clearance of lysosomal enzymes in vivo.Proc Natl Acad Sci U S A. 1976 Nov;73(11):4045-9. doi: 10.1073/pnas.73.11.4045. Proc Natl Acad Sci U S A. 1976. PMID: 186782 Free PMC article.
-
Defective catabolism of low-density lipoprotein by fibroblasts from patients with I-cell disease.Biochem J. 1982 Jan 15;202(1):183-90. doi: 10.1042/bj2020183. Biochem J. 1982. PMID: 7082306 Free PMC article.
-
A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.J Biol Chem. 2014 Sep 26;289(39):26709-26721. doi: 10.1074/jbc.M114.586156. Epub 2014 Aug 8. J Biol Chem. 2014. PMID: 25107912 Free PMC article.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
