Literature DB >> 21464753

Markedly elevated serum transaminases in glycogen storage disease type III.

Christine Karwowski1, Csaba Galambos, David Finegold, Benjamin L Shneider.   

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Year:  2011        PMID： 21464753      PMCID： PMC4369763          DOI： 10.1097/MPG.0b013e31820e6a55

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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  13 in total

Review 1.  Glycogen storage diseases.

Authors:  Joseph I Wolfsdorf; David A Weinstein
Journal:  Rev Endocr Metab Disord       Date:  2003-03       Impact factor: 6.514

2.  Glycogen storage disease type III in Inuit children.

Authors:  Paul James A Zimakas; Celia J Rodd
Journal:  CMAJ       Date:  2005-02-01       Impact factor: 8.262

3.  Severe hypoglycaemia in a patient with glycogen storage disease type III induced by infectious mononucleosis.

Authors:  T Kimura; H Ikeda; M Kato; A Ito; M Okubo; K Hayasaka
Journal:  J Inherit Metab Dis       Date:  2001-12       Impact factor: 4.982

4.  Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III.

Authors:  Sue-Hyun Oh; Hyung-Doo Park; Chang-Seok Ki; Yon-Ho Choe; Soo-Youn Lee
Journal:  Clin Chem Lab Med       Date:  2008       Impact factor: 3.694

5.  Hyperlipidemia in glycogen storage disease type III: effect of age and metabolic control.

Authors:  A V Bernier; C P Sentner; C E Correia; D W Theriaque; J J Shuster; G P A Smit; D A Weinstein
Journal:  J Inherit Metab Dis       Date:  2008-08-19       Impact factor: 4.982

6.  Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId.

Authors:  Yoriko Endo; Ekram Fateen; Mortada El Shabrawy; Yoshiko Aoyama; Tetsu Ebara; Toshio Murase; Teodor Podskarbi; Yoon S Shin; Minoru Okubo
Journal:  Clin Chem Lab Med       Date:  2009       Impact factor: 3.694

7.  A simple, rapid test for the differential diagnosis of glycogen storage disease type 3.

Authors:  Jalaluddin Bhuiyan; Ali N Al Odaib; Pinar T Ozand
Journal:  Clin Chim Acta       Date:  2003-09       Impact factor: 3.786

8.  Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features.

Authors:  R A Coleman; H S Winter; B Wolf; Y T Chen
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

9.  Mutational analysis of the AGL gene: five novel mutations in GSD III patients.

Authors:  S Lucchiari; M A Donati; D Melis; M Filocamo; R Parini; N Bresolin; G P Comi
Journal:  Hum Mutat       Date:  2003-10       Impact factor: 4.878

10.  Glycogen storage disease type III diagnosis and management guidelines.

Authors:  Priya S Kishnani; Stephanie L Austin; Pamela Arn; Deeksha S Bali; Anne Boney; Laura E Case; Wendy K Chung; Dev M Desai; Areeg El-Gharbawy; Ronald Haller; G Peter A Smit; Alastair D Smith; Lisa D Hobson-Webb; Stephanie Burns Wechsler; David A Weinstein; Michael S Watson
Journal:  Genet Med       Date:  2010-07       Impact factor: 8.822
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  1 in total

1.  Characterization of a canine model of glycogen storage disease type IIIa.

Authors:  Haiqing Yi; Beth L Thurberg; Sarah Curtis; Stephanie Austin; John Fyfe; Dwight D Koeberl; Priya S Kishnani; Baodong Sun
Journal:  Dis Model Mech       Date:  2012-06-26       Impact factor: 5.758
  1 in total

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