Literature DB >> 2558039

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

S Shiomi1, Y Saeki, K Kim, S Nishiguchi, S Seki, T Kuroki, K Kobayashi, S Harihara, M Owada.   

Abstract

The case of a 17-year-old female with a rare form of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor is reported. Laparoscopy showed a tumor 50 mm in diameter in the lower portion of the right lobe of the liver. The tumor was biopsied under ultrasonic guidance, and tentatively diagnosed as adenomatous hyperplasia. The patient was also diagnosed as having type VIII glycogenosis (phosphorylase kinase deficiency).

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Year:  1989        PMID： 2558039     DOI： 10.1007/BF02774172

Source DB:  PubMed          Journal:  Gastroenterol Jpn        ISSN： 0435-1339


  7 in total

1.  Leukocyte debranching enzyme in glycogen storage disease.

Authors:  H E WILLIAMS; E M KENDIG; J B FIELD
Journal:  J Clin Invest       Date:  1963-05       Impact factor: 14.808

2.  Glucose-6-phosphatase of the liver in glycogen storage disease.

Authors:  G T CORI; C F CORI
Journal:  J Biol Chem       Date:  1952-12       Impact factor: 5.157

3.  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.

Authors:  B Lederer; F Van Hoof; G Van den Berghe; H Hers
Journal:  Biochem J       Date:  1975-04       Impact factor: 3.857

4.  Loss of cyclic 3'5'-AMP dependent kinase and reduction of phosphorylase kinase in skeletal muscle of a girl with deactivated phosphorylase and glycogenosis of liver and muscle.

Authors:  G Hug; W K Schubert; G Chuck
Journal:  Biochem Biophys Res Commun       Date:  1970-08-24       Impact factor: 3.575

5.  Hepatic phosphorylase deficiency. Its differentiation from other hepatic glycogenoses.

Authors:  J Fernandes; J F Koster; W F Grose; N Sorgedrager
Journal:  Arch Dis Child       Date:  1974-03       Impact factor: 3.791

Review 6.  [Clinical approaches to glycogenoses: analyses on muscle, liver, leucocytes and erythrocytes].

Authors:  S Tarui
Journal:  Nihon Naika Gakkai Zasshi       Date:  1987-09

7.  [A report on an adult case of type III glycogenosis with primary liver cancer and liver cirrhosis].

Authors:  J Shimizu; H Shiraishi; S Sakurabayashi; F Sugiura; H Takizawa; K Miyazaki; Y Matsumoto; Y Nishizato; T Sato; Y Watanabe; S Masuda; Y Watanbe; Y Otaka; T Sakiyama; T Kitagawa; S Mizuguchi; S Ashizawa
Journal:  Nihon Shokakibyo Gakkai Zasshi       Date:  1982-12
  7 in total
  1 in total

Review 1.  Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.

Authors:  Buthainah Albash; Faiqa Imtiaz; Hamad Al-Zaidan; Hadeel Al-Manea; Mohammed Banemai; R Allam; Ali Al-Suheel; Mohammed Al-Owain
Journal:  Eur J Pediatr       Date:  2013-12-11       Impact factor: 3.183
  1 in total

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