scholarly journals Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient

2021 ◽  
Author(s):  
Hua Wang ◽  
Liang Huo ◽  
Yajian Wang ◽  
Weiwei Sun ◽  
Weiyue Gu
Keyword(s):  
Storage Disease ◽  
Usher Syndrome ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Chromosome 1 ◽  
Syndrome Type ◽  
Uniparental Isodisomy ◽  
Type 3 ◽  
Usher Syndrome Type

PP-078 A Rare Condition: Glycogen Storage Disease Type 3

2016 ◽  
Vol 117 ◽  
pp. S69
Author(s):  
Zakir Lazoğlu ◽  
Uğur Aksu ◽  
Kamuran Kalkan ◽  
Oktay Gulcu ◽  
Selim Topcu
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Rare Condition ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type 3

scholarly journals A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families

2014 ◽  
Vol 34 (5) ◽  
pp. 390-395 ◽  
Author(s):  
Sulman Basit ◽  
Omhani Malibari ◽  
Alia Mahmood Al Balwi ◽  
Firoz Abdusamad ◽  
Feras Abu Ismail
Keyword(s):  
Glycogen Storage Disease ◽  
Splice Site ◽  
Storage Disease ◽  
Splice Site Mutation ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Site Mutation ◽  
Type 3

Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3

2018 ◽  
Vol 19 (4) ◽  
pp. 203-210 ◽  
Author(s):  
Ferdos Nazari ◽  
Farnaz Sinaei ◽  
Yalda Nilipour ◽  
François Petit ◽  
Shahram Oveisgharan ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type 3 ◽  
Iranian Patients

scholarly journals Gross cardiac involvement in glycogen storage disease type 3.

Heart ◽  
1972 ◽  
Vol 34 (8) ◽  
pp. 862-864 ◽  
Author(s):  
C G Miller ◽  
G A Alleyne ◽  
S E Brooks
Keyword(s):  
Glycogen Storage Disease ◽  
Cardiac Involvement ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type 3
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