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Items: 1 to 20 of 128

1.

The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients.

Willems PJ, Gerver WJ, Berger R, Fernandes J.

Eur J Pediatr. 1990 Jan;149(4):268-71.

PMID:
2303074
2.

[Glycogenosis due to a defect of liver phosphorylase-kinase (glycogenosis type IX). A clinical, biochemical, and electron-microscopy study].

Mardesić D, Jadro-Santel D, Crnojević-Ivanusić R, Lipovac K, Juretić D.

Acta Med Iugosl. 1978;32(1):75-91. Croatian. No abstract available.

PMID:
274067
3.

Hepatic glycogenosis due to phosphorylase deficiency. Limitations of enzyme studies on liver biopsy specimens.

Wagner R, Huijing F, Porter E.

Am J Med. 1971 Nov;51(5):685-91. No abstract available.

PMID:
5287080
4.

Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys.

Garibaldi LR, Borrone C, de Martini I, Battistini E.

Helv Paediatr Acta. 1978 Nov;33(4-5):435-41.

PMID:
280544
5.

Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle.

Madlom M, Besley GT, Cohen PT, Marrian VJ.

Eur J Pediatr. 1989 Oct;149(1):52-3.

PMID:
2606129
6.

Patterns of growth in the hepatic glycogenoses.

Dunger DB, Leonard JV, Preece MA.

Arch Dis Child. 1984 Jul;59(7):657-60.

8.

[Phosphorylase-kinase deficiency: VI/b type glycogenosis].

Korányi G, Kovács J.

Orv Hetil. 1979 Sep 23;120(38):2305-9. Hungarian. No abstract available.

PMID:
293599
9.

Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency.

Schimke RN, Zakheim RM, Corder RC, Hug G.

J Pediatr. 1973 Dec;83(6):1031-4. No abstract available.

PMID:
4518931
10.

Glycogenosis due to liver and muscle phosphorylase kinase deficiency.

Bashan N, Iancu TC, Lerner A, Fraser D, Potashnik R, Moses SW.

Pediatr Res. 1981 Apr;15(4 Pt 1):299-303.

PMID:
6938920
11.

Liver glycogenosis caused by a defective phosphorylase system: hemolysate analysis.

Baussan C, Moatti N, Odievre M, Lemonnier A.

Pediatrics. 1981 Jan;67(1):107-12.

PMID:
6787554
12.

[Glycogenosis with cirrhosis in 2 brothers. Significance of the demonstrated enzyme defects].

Gentil C, Odievre M, Vassoyan J, Alagille D.

Arch Fr Pediatr. 1972 Jan;29(1):79-97. French. No abstract available.

PMID:
4504126
13.

Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).

Hendrickx J, Coucke P, Hors-Cayla MC, Smit GP, Shin YS, Deutsch J, Smeitink J, Berger R, Lee P, Fernandes J, et al.

Genomics. 1994 Jun;21(3):620-5.

PMID:
7959740
14.

Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency.

Sanjad SA, Kaddoura RE, Nazer HM, Akhtar M, Sakati NA.

Am J Dis Child. 1993 Sep;147(9):957-9.

PMID:
8362811
15.

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.

Burwinkel B, Amat L, Gray RG, Matsuo N, Muroya K, Narisawa K, Sokol RJ, Vilaseca MA, Kilimann MW.

Hum Genet. 1998 Apr;102(4):423-9.

PMID:
9600238
16.

Characteristic growth pattern in male X-linked phosphorylase-b kinase deficiency (GSD IX).

Schippers HM, Smit GP, Rake JP, Visser G.

J Inherit Metab Dis. 2003;26(1):43-7.

PMID:
12872839
17.

Use of platelets, mononuclear and polymorphonuclear cells in the diagnosis of glycogen storage disease type VI.

Dahan N, Baussan C, Moatti N, Lemonnier A.

J Inherit Metab Dis. 1988;11(3):253-60.

PMID:
3148066
18.

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.

Biochem Biophys Res Commun. 1984 Mar 15;119(2):582-7.

PMID:
6424667
19.

Hepatic phosphorylase deficiency: a biochemical study.

Koster JF, Fernandes J, Slee RG, van Berkel TJ, Hülsmann WC.

Biochem Biophys Res Commun. 1973 Jul 2;53(1):282-90. No abstract available.

PMID:
4517728

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