Beta-glucuronidase deficiency mucopolysaccharidosis: methods for enzymatic diagnosis
- PMID: 4202279
Item in Clipboard
Beta-glucuronidase deficiency mucopolysaccharidosis: methods for enzymatic diagnosis
J Lab Clin Med.
1973 Dec.
No abstract available
Similar articles
-
Pseudo-Hurler polydystrophy (mucolipidosis 3). A clinical, biochemical and ultrastructural study.Isr J Med Sci. 1974 May;10(5):463-75. Isr J Med Sci. 1974. PMID: 4213328 No abstract available.
-
[Proceedings: Fluorimetric determination of some enzymes in leukocytes involved in metabolic disorders].Quad Sclavo Diagn. 1973 Mar;9(1):472-83. Quad Sclavo Diagn. 1973. PMID: 4788724 Italian. No abstract available.
-
Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease.Arch Intern Med. 1971 Sep;128(3):387-98. Arch Intern Med. 1971. PMID: 4999185 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.
-
[Biochemical characteristics and diagnosis of lysosomal diseases related to hereditary glycosidase deficiency].Vestn Akad Med Nauk SSSR. 1982;(6):42-7. Vestn Akad Med Nauk SSSR. 1982. PMID: 6810572 Review. Russian. No abstract available.
Cited by
-
Low beta-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII.J Inherit Metab Dis. 1991;14(6):908-14. doi: 10.1007/BF01800472. J Inherit Metab Dis. 1991. PMID: 1779649
-
Beta-Glucuronidase Catalyzes Deconjugation and Activation of Curcumin-Glucuronide in Bone.J Nat Prod. 2019 Mar 22;82(3):500-509. doi: 10.1021/acs.jnatprod.8b00873. Epub 2019 Feb 22. J Nat Prod. 2019. PMID: 30794412 Free PMC article.
-
Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report.BMC Ophthalmol. 2023 Sep 26;23(1):394. doi: 10.1186/s12886-023-03136-4. BMC Ophthalmol. 2023. PMID: 37752499 Free PMC article.
-
Five related Lebanese individuals with high plasma lysosomal hydrolases: a new defect in mannose-6-phosphate receptor recognition?Am J Hum Genet. 1984 Sep;36(5):1001-14. Am J Hum Genet. 1984. PMID: 6238528 Free PMC article.
-
Adenovirus-mediated gene transfer and expression of human beta-glucuronidase gene in the liver, spleen, and central nervous system in mucopolysaccharidosis type VII mice.Proc Natl Acad Sci U S A. 1997 Feb 18;94(4):1287-92. doi: 10.1073/pnas.94.4.1287. Proc Natl Acad Sci U S A. 1997. PMID: 9037045 Free PMC article.
MeSH terms
Substances
LinkOut - more resources
Other Literature Sources