Literature DB >> 21032403

Infantile Hypoglycaemia due to Inherited Deficiency of Glycogen Synthetase in Liver.

G M Lewis, J Spencer-Peet, K M Stewart.   

Abstract

Entities:  

Year:  1963        PMID： 21032403      PMCID： PMC2019050          DOI： 10.1136/adc.38.197.40

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


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  10 in total

1.  Adrenaline excretion during resting conditions and after insulin in adrenalectomized human subjects.

Authors:  U von EULER; D IKKOS; R LUFT
Journal:  Acta Endocrinol (Copenh)       Date:  1961-11

2.  Recognition and investigation of hypoglycemia.

Authors:  A F HARTMANN; H J WOHLTMANN; J HOLOWACH
Journal:  J Pediatr       Date:  1961-06       Impact factor: 4.406

3.  Glucose utilization by erythrocytes from muscular dystrophy patients.

Authors:  R J PENNINGTON; P LEYBURN
Journal:  Clin Chim Acta       Date:  1960-09       Impact factor: 3.786

4.  Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle.

Authors:  R SCHMID; R MAHLER
Journal:  J Clin Invest       Date:  1959-11       Impact factor: 14.808

5.  Studies on the mechanism of action of the adrenocorticotropic hormone.

Authors:  R C HAYNES; L BERTHET
Journal:  J Biol Chem       Date:  1957-03       Impact factor: 5.157

6.  Indirect analysis of corticosteroids. I. The determination of 17-hydroxycorticosteroids.

Authors:  J I APPLEBY; G GIBSON; J K NORYMBERSKI; R D STUBBS
Journal:  Biochem J       Date:  1955-07       Impact factor: 3.857

7.  Spontaneous hypoglycemia.

Authors:  J W CONN; H S SELTZER
Journal:  Am J Med       Date:  1955-09       Impact factor: 4.965

8.  Idiopathic spontaneously occurring hypoglycemia in infants; clinical significance of problem and treatment.

Authors:  I McQUARRIE
Journal:  AMA Am J Dis Child       Date:  1954-04

9.  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

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
  9 in total

Review 1.  The histochemical evaluation of the glycogen storage diseases. A review of techniques and their limitations.

Authors:  B D Lake
Journal:  Histochem J       Date:  1970-09

2.  [Some disorders of blood sugar metabolism in newborn infants].

Authors:  C Y Yeung
Journal:  Acta Diabetol Lat       Date:  1972 Jul-Aug

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

Review 5.  Glycogen storage diseases: new perspectives.

Authors:  Hasan Ozen
Journal:  World J Gastroenterol       Date:  2007-05-14       Impact factor: 5.742

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

7.  PERSISTENT ASYMPTOMATIC SEVERE HYPOGLYCAEMIA DUE TO TYPE 0A GLYCOGENOSIS - GENERAL AND ORO-DENTAL ASPECTS.

Authors:  L Matei; M I Teodorescu; A Kozma; A D Iordan Dumitru; S M Stoicescu; S Carniciu
Journal:  Acta Endocrinol (Buchar)       Date:  2019 Oct-Dec       Impact factor: 0.877

8.  Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2.

Authors:  Edyta Szymańska; Dariusz Rokicki; Urszula Wątrobinska; Elżbieta Ciara; Paulina Halat; Rafał Płoski; Anna Tylki-Szymańka
Journal:  Mol Genet Metab Rep       Date:  2015-08-24

Review 9.  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
  9 in total

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