A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series
I Rousseau-Nepton, M Okubo, R Grabs, J Mitchell… - CMAJ, 2015 - Can Med Assoc
Background: Glycogen storage disease type III is caused by mutations in both alleles of the
AGL gene, which leads to reduced activity of glycogen-debranching enzyme. The clinical …
AGL gene, which leads to reduced activity of glycogen-debranching enzyme. The clinical …
Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III
Glycogen storage disease type III (GSD III) is a rare autosomal recessive inborn error of
glycogen degradation pathway due to deficiency or reduced activity of glycogen …
glycogen degradation pathway due to deficiency or reduced activity of glycogen …
Neuromuscular involvement in glycogen storage disease type III in fifty Tunisian patients: phenotype and natural history in young patients
AB Chehida, SB Messaoud, RB Abdelaziz… - …, 2019 - thieme-connect.com
Background Our aim was to describe the natural history of neuromuscular involvement (NMI)
in glycogen storage disease type III (GSDIII). Methods We conducted a longitudinal study of …
in glycogen storage disease type III (GSDIII). Methods We conducted a longitudinal study of …
Targeted next generation sequencing screening of Lynch syndrome in Tunisian population
R Ben Sghaier, AML Jansen, A Bdioui, T Van Wezel… - Familial Cancer, 2019 - Springer
A high colorectal cancer (CRC) incidence is observed in Tunisia, with a relatively high
proportion of patients developing CRC before the age of 40. While this suggests a genetic …
proportion of patients developing CRC before the age of 40. While this suggests a genetic …
Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III
F Ben Rhouma, H Azzouz, FM Petit, MB Khelifa… - Molecular biology …, 2013 - Springer
Genetic deficiency of the glycogen debranching enzyme causes glycogen storage disease
type III, an autosomal recessive inherited disorder. The gene encoding this enzyme is …
type III, an autosomal recessive inherited disorder. The gene encoding this enzyme is …
A novel nonsense mutation of the AGL gene in a Romanian patient with glycogen storage disease type IIIa
A Zimmermann, H Rossmann… - Case Reports in …, 2016 - Wiley Online Library
Background. Glycogen storage disease type III (GSDIII) is a rare metabolic disorder with
autosomal recessive inheritance, caused by deficiency of the glycogen debranching …
autosomal recessive inheritance, caused by deficiency of the glycogen debranching …
11 The Genetic Epidemiology of Orphan Diseases in North Africa
North Africa (NA) is defined as the northernmost geographical region of the African
continent, linked by the Sahara from the south and separated from Europe by the …
continent, linked by the Sahara from the south and separated from Europe by the …