Liver phosphorylase deficiency in glycogenosis type VI: documentation by biochemical analysis of hepatic biopsy specimens
- PMID: 4525529
Liver phosphorylase deficiency in glycogenosis type VI: documentation by biochemical analysis of hepatic biopsy specimens
Similar articles
-
Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys.Helv Paediatr Acta. 1978 Nov;33(4-5):435-41. Helv Paediatr Acta. 1978. PMID: 280544
-
Hepatic glycogenosis due to phosphorylase deficiency. Limitations of enzyme studies on liver biopsy specimens.Am J Med. 1971 Nov;51(5):685-91. doi: 10.1016/0002-9343(71)90295-6. Am J Med. 1971. PMID: 5287080 No abstract available.
-
Glycogenosis with reduced activity of leukocyte phosphorylase. A survey and a case.Dan Med Bull. 1970 Jan;17(1):28-32. Dan Med Bull. 1970. PMID: 5267239 No abstract available.
-
The hepatic glycogenoses.Lancet. 1971 Jun 26;1(7713):1339-40. Lancet. 1971. PMID: 4103400 Review. No abstract available.
-
The histochemical evaluation of the glycogen storage diseases. A review of techniques and their limitations.Histochem J. 1970 Sep;2(5):441-50. doi: 10.1007/BF01004725. Histochem J. 1970. PMID: 4114291 Review. No abstract available.
Cited by
-
The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14.Am J Hum Genet. 1987 Apr;40(4):351-64. Am J Hum Genet. 1987. PMID: 2883891 Free PMC article.
-
Use of platelets, mononuclear and polymorphonuclear cells in the diagnosis of glycogen storage disease type VI.J Inherit Metab Dis. 1988;11(3):253-60. doi: 10.1007/BF01800366. J Inherit Metab Dis. 1988. PMID: 3148066
-
Human liver glycogen phosphorylase. Kinetic properties and assay in biopsy specimens.Biochem J. 1976 Dec 1;159(3):689-95. doi: 10.1042/bj1590689. Biochem J. 1976. PMID: 1008826 Free PMC article.
-
Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S289-94. doi: 10.1007/s10545-010-9139-x. Epub 2010 Jun 8. J Inherit Metab Dis. 2010. PMID: 20532819