Literature DB >> 4505568

Hepatic glycogen synthetase deficiency. Further studies on a family.

J R Dykes, J Spencer-Peet.   

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Year:  1972        PMID： 4505568      PMCID： PMC1648321          DOI： 10.1136/adc.47.254.558

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  10 in total

1.  ERYTHROCYTE GLYCOGEN SYNTHETASE IN GLYCOGEN STORAGE DEFICIENCY RESULTING FROM THE ABSENCE OF THIS ENZYME FROM LIVER.

Authors:  J SPENCER-PEET
Journal:  Clin Chim Acta       Date:  1964-11       Impact factor: 3.786

2.  A SIMPLE METHOD FOR IMPROVING THE SPECIFICITY OF THE FLUORIMETRIC DETERMINATION OF ADRENAL CORTICOSTEROIDS IN HUMAN PLASMA.

Authors:  J SPENCER PEET; J R DALY; V SMITH
Journal:  J Endocrinol       Date:  1965-02       Impact factor: 4.286

3.  SYMPTOMATIC HYPOGLYCEMIA, VISCERAL FATTY METAMORPHOSIS, AND AGLYCOGENOSIS IN AN INFANT LACKING GLYCOGEN SYNTHETASE AND PHOSPHORYLAS.

Authors:  J PARR; T M TEREE; J LARNER
Journal:  Pediatrics       Date:  1965-05       Impact factor: 7.124

4.  Immunoassay of insulin with insulin-antibody precipitate.

Authors:  C N HALES; P J RANDLE
Journal:  Biochem J       Date:  1963-07       Impact factor: 3.857

5.  A simple fluorimetric method for the estimation of free 11-hydroxycorticoids in human plasma.

Authors:  D MATTINGLY
Journal:  J Clin Pathol       Date:  1962-07       Impact factor: 3.411

6.  Criteria for and interpretation of normal glucose tolerance tests.

Authors:  H O MOSENTHAL; E BARRY
Journal:  Ann Intern Med       Date:  1950-11       Impact factor: 25.391

7.  Hepatic glycogen storage disease. Clinical and laboratory findings in 23 cases.

Authors:  J Spencer-Peet; M E Norman; B D Lake; J McNamara; A D Patrick
Journal:  Q J Med       Date:  1971-01

8.  A screening method for liver glycogen diseases.

Authors:  J Fernandes; F Huijing; J H van de Kamer
Journal:  Arch Dis Child       Date:  1969-06       Impact factor: 3.791

9.  Rapid enzymatic measurement of blood lactate and pyruvate. Use and significance of metaphosphoric acid as a common precipitant.

Authors:  E P Marbach; M H Weil
Journal:  Clin Chem       Date:  1967-04       Impact factor: 8.327

10.  The response of blood glucose, ketones, and plasma nonesterified fatty acids to fasting and epinephrine injection in infants and children.

Authors:  R KAYE; M H DAVIDSON; M L WILLIAMS; M KUMAGAI; D M PICOU
Journal:  J Pediatr       Date:  1961-12       Impact factor: 4.406
  10 in total
  7 in total

1.  Hepatic glycogen synthetase deficiency.

Authors: 
Journal:  Arch Dis Child       Date:  1973-02       Impact factor: 3.791

Review 2.  The glycogen storage diseases.

Authors:  B E Ryman
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

Review 3.  Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia.

Authors:  David A Weinstein; Catherine E Correia; Andrew C Saunders; Joseph I Wolfsdorf
Journal:  Mol Genet Metab       Date:  2005-12-06       Impact factor: 4.797

4.  Liver glycogen synthase deficiency: a rarely diagnosed entity.

Authors:  R Gitzelmann; M A Spycher; G Feil; J Müller; B Seilnacht; M Stahl; N U Bosshard
Journal:  Eur J Pediatr       Date:  1996-07       Impact factor: 3.183

5.  Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl.

Authors:  A Aynsley-Green; D H Williamson; R Gitzelmann
Journal:  Arch Dis Child       Date:  1977-07       Impact factor: 3.791

6.  Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a.

Authors:  Hiroyuki Iijima; Yasuhiko Ago; Ryoji Fujiki; Takaaki Takayanagi; Mitsuru Kubota
Journal:  Mol Genet Metab Rep       Date:  2021-01-10

Review 7.  A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review.

Authors:  Janez Jan Arko; Marusa Debeljak; Mojca Zerjav Tansek; Tadej Battelino; Urh Groselj
Journal:  J Int Med Res       Date:  2020-08       Impact factor: 1.671
  7 in total

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