This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

Skip to main page content

Add to Collections

Your saved search

Name of saved search:

Search terms:

Test search terms

Would you like email updates of new search results?

Yes
No

Email: (change)

Frequency:

Which day?

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

Case Reports

. 1994;17(1):116-7.

doi: 10.1007/BF00735410.

Hepatic phosphorylase b kinase deficiency with normal enzyme activity in erythrocytes and muscle

M J Lozano¹, T Benlloch, L V Garcia, M Garcia Fuentes

Affiliations

PMID: 8051918
DOI: 10.1007/BF00735410

Case Reports

Hepatic phosphorylase b kinase deficiency with normal enzyme activity in erythrocytes and muscle

M J Lozano et al. J Inherit Metab Dis. 1994.

. 1994;17(1):116-7.

doi: 10.1007/BF00735410.

Authors

M J Lozano¹, T Benlloch, L V Garcia, M Garcia Fuentes

Affiliation

¹ Departamento de Pediatría, Hospital Universitario Valdecilla, Universidad de Cantabria, Santander, Spain.

PMID: 8051918
DOI: 10.1007/BF00735410

No abstract available

PubMed Disclaimer

Similar articles

Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency.
Lederer B, Van Hoof F, Van den Berghe G, Hers H. Lederer B, et al. Biochem J. 1975 Apr;147(1):23-35. doi: 10.1042/bj1470023. Biochem J. 1975. PMID: 168880 Free PMC article.
Glycogenosis due to liver and muscle phosphorylase kinase deficiency.
Bashan N, Iancu TC, Lerner A, Fraser D, Potashnik R, Moses SW. Bashan N, et al. Pediatr Res. 1981 Apr;15(4 Pt 1):299-303. doi: 10.1203/00006450-198104000-00002. Pediatr Res. 1981. PMID: 6938920
A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase.
Mizuta K, Hashimoto E, Tsutou A, Eishi Y, Takemura T, Narisawa K, Yamamura H. Mizuta K, et al. Biochem Biophys Res Commun. 1984 Mar 15;119(2):582-7. doi: 10.1016/s0006-291x(84)80288-0. Biochem Biophys Res Commun. 1984. PMID: 6424667
Genetic aspects of muscle glycogenosis.
Moses SW, Bashan N. Moses SW, et al. Prog Clin Biol Res. 1989;306:149-61. Prog Clin Biol Res. 1989. PMID: 2500668 Review. No abstract available.
Muscle glycogenosis.
Moses SW. Moses SW. J Inherit Metab Dis. 1990;13(4):452-65. doi: 10.1007/BF01799503. J Inherit Metab Dis. 1990. PMID: 2122112 Review.

See all similar articles

Cited by

Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.
Hendrickx J, Lee P, Keating JP, Carton D, Sardharwalla IB, Tuchman M, Baussan C, Willems PJ. Hendrickx J, et al. Am J Hum Genet. 1999 Jun;64(6):1541-9. doi: 10.1086/302399. Am J Hum Genet. 1999. PMID: 10330341 Free PMC article.

References

1. J Inherit Metab Dis. 1991;14(2):269-70 - PubMed
1. J Inherit Metab Dis. 1990;13(4):435-41 - PubMed
1. J Inherit Metab Dis. 1990;13(4):442-51 - PubMed

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions

LinkOut - more resources

Full Text Sources
- Wiley