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Items: 1 to 20 of 246

1.

Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver.

Kagalwalla AF, Kagalwalla YA, al Ajaji S, Gorka W, Ali MA.

J Pediatr. 1995 Oct;127(4):602-5.

PMID:
7562285
2.

[Glycogenosis type VI and VIa--biochemical and clinical documentation].

Pieniazek D, Pronicka E, Cabalska B, Borowska B, Miłoszewska E, Maciejko D, Kulczycka H, Prokopowicz K.

Pediatr Pol. 1985 Jul;60(7):489-96. Polish. No abstract available.

PMID:
3938009
3.

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
4.

[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
5.

A female case of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor.

Shiomi S, Saeki Y, Kim K, Nishiguchi S, Seki S, Kuroki T, Kobayashi K, Harihara S, Owada M.

Gastroenterol Jpn. 1989 Dec;24(6):711-4.

PMID:
2558039
7.

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
8.

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
9.

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
10.

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
11.

Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis.

Johnson AO, Goldstein JL, Bali D.

J Pediatr Gastroenterol Nutr. 2012 Jul;55(1):90-2. doi: 10.1097/MPG.0b013e31823276ea. No abstract available.

PMID:
21857251
12.

Phosphorylase kinase of the liver: deficiency in a girl with increased hepatic glycogen.

Hug G, Schubert WK, Chuck G.

Science. 1966 Sep 23;153(3743):1534-5.

PMID:
5223147
13.

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
14.
16.

Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.

Burwinkel B, Rootwelt T, Kvittingen EA, Chakraborty PK, Kilimann MW.

Pediatr Res. 2003 Dec;54(6):834-9. Epub 2003 Aug 20.

PMID:
12930917
17.

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
18.
19.

[Glycogenosis type VI. Report of two cases (author's transl)].

D'Eufemia P, Cantani A, Corrado G, Gambarara M, Ruberto U, Giardini O.

Pediatr Med Chir. 1981 Jan-Feb;3(1):61-5. Italian. No abstract available.

PMID:
6795607
20.

[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
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