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Items: 1 to 20 of 308

1.

A new variant of glycogen storage disease. Type IXc.

Lerner A, Iancu TC, Bashan N, Potashnik R, Moses S.

Am J Dis Child. 1982 May;136(5):406-10.

PMID:
6952760
2.

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
3.

Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency.

Ohtani Y, Matsuda I, Iwamasa T, Tamari H, Origuchi Y, Miike T.

Neurology. 1982 Aug;32(8):833-8.

PMID:
6285226
4.

Glycogen storage disease. Studies related to the mechanism of glycogenosome formation.

Iwamasa T, Ninomiya N, Fukuda S, Hamada T, Hirashima M, Osame M.

Pathol Res Pract. 1983 Mar;176(2-4):236-52.

PMID:
6304667
5.

Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease.

Eishi Y, Takemura T, Sone R, Yamamura H, Narisawa K, Ichinohasama R, Tanaka M, Hatakeyama S.

Hum Pathol. 1985 Feb;16(2):193-7.

PMID:
3918928
6.

Studies in glycogen storage disease. IV. Leukocyte phosphorylase in a family with type VI GSD.

Schwartz D, Savin M, Drash A, Field J.

Metabolism. 1970 Mar;19(3):238-45. No abstract available.

PMID:
4313495
7.

Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase.

Danon MJ, Carpenter S, Manaligod JR, Schliselfeld LH.

Neurology. 1981 Oct;31(10):1303-7.

PMID:
6213881
8.
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.

Glycogen storage disease type IX: High variability in clinical phenotype.

Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M.

Mol Genet Metab. 2007 Sep-Oct;92(1-2):88-99. Epub 2007 Aug 3.

PMID:
17689125
11.

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
12.

Glycogen storage diseases.

Hug G.

Birth Defects Orig Artic Ser. 1976;12(6):145-75. Review.

PMID:
788807
13.

A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease.

Greene HL, Brown BI, McClenathan DT, Agostini RM Jr, Taylor SR.

Hepatology. 1988 Mar-Apr;8(2):302-6.

PMID:
3162725
14.

Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.

Shin YS.

Semin Pediatr Neurol. 2006 Jun;13(2):115-20. Review.

PMID:
17027861
15.

Glycogen storage disease type IB.

Buchino JJ, Brown BI, Volk DM.

Arch Pathol Lab Med. 1983 Jun;107(6):283-5.

PMID:
6303265
16.

Age-related augmentation of phosphorylase b kinase in hepatic tissue from the glycogen-storage-disease (gsd/gsd) rat.

Clark DG, Neville SD, Brinkman M, Nelson PV, Illman RJ, Guthberlet A, Haynes WD.

Biochem J. 1986 Sep 15;238(3):811-6.

17.

Multiple voxel 1H MR spectroscopy of phosphorylase-b kinase deficient patients (GSD IXa) showing an accumulation of fat in the liver that resolves with aging.

Sijens PE, Smit GP, Borgdorff MA, Kappert P, Oudkerk M.

J Hepatol. 2006 Dec;45(6):851-5. Epub 2006 Aug 22.

PMID:
17005290
18.

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
19.

Glycogen-storage disease in rats, a genetically determined deficiency of liver phosphorylase kinase.

Malthus R, Clark DG, Watts C, Sneyd JG.

Biochem J. 1980 Apr 15;188(1):99-106.

20.

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