Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III

2013 ◽  
Vol 40 (7) ◽  
pp. 4197-4202 ◽  
Author(s):  
Faten Ben Rhouma ◽  
Hatem Azzouz ◽  
François M. Petit ◽  
Mariem Ben Khelifa ◽  
Amel Ben Chehida ◽  
...  
Keyword(s):  
Point Mutation ◽  
Storage Disease ◽  
Biochemical Characterization ◽  
Single Point ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Single Point Mutation ◽  
Tunisian Family

scholarly journals Erratum: Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

2012 ◽  
Vol 57 (3) ◽  
pp. 221-221
Author(s):  
Amira Mili ◽  
Ilhem Ben Charfeddine ◽  
Ons Mama ◽  
Sonia Abdelhak ◽  
Labiba Adala ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Biochemical Characterization ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iii ◽  
Tunisian Patients

scholarly journals Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

2011 ◽  
Vol 57 (3) ◽  
pp. 170-175 ◽  
Author(s):  
Amira Mili ◽  
Ilhem Ben Charfeddine ◽  
Ons Mamaï ◽  
Wafa Cherif ◽  
Labiba Adala ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Biochemical Characterization ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iii ◽  
Tunisian Patients

scholarly journals Cloning and Characterization of cDNAs Encoding a Candidate Glycogen Storage Disease Type 1b Protein in Rodents

1998 ◽  
Vol 273 (48) ◽  
pp. 31656-31660 ◽  
Author(s):  
Baochuan Lin ◽  
Borhane Annabi ◽  
Hisayuki Hiraiwa ◽  
Chi-Jiunn Pan ◽  
Janice Yang Chou
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder

2010 ◽  
Vol 33 (S3) ◽  
pp. 83-90 ◽  
Author(s):  
Sing-Chung Li ◽  
Chiao-Ming Chen ◽  
Jennifer L. Goldstein ◽  
Jer-Yuarn Wu ◽  
Emmanuelle Lemyre ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Novel Mutations ◽  
Type Iv

Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I

2013 ◽  
Vol 58 (2) ◽  
pp. 350-357 ◽  
Author(s):  
Julien Calderaro ◽  
Philippe Labrune ◽  
Guillaume Morcrette ◽  
Sandra Rebouissou ◽  
Dominique Franco ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type I ◽  
Hepatocellular Adenomas
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