scholarly journals Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib

2015 ◽  
pp. 39-45 ◽  
Author(s):  
Daniela Melis ◽  
Giorgia Minopoli ◽  
Francesca Balivo ◽  
Paola Marcolongo ◽  
Rossella Parini ◽  
...  
Keyword(s):  
Vitamin E ◽  
Clinical Outcome ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type

Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b

2008 ◽  
Vol 168 (9) ◽  
pp. 1069-1074 ◽  
Author(s):  
D. Melis ◽  
R. Della Casa ◽  
R. Parini ◽  
M. Rigoldi ◽  
C. Cacciapuoti ◽  
...  
Keyword(s):  
Vitamin E ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Vitamin E Supplementation

Calcium as a marker of metabolic decompensation in glycogen storage disease type-1a

2016 ◽  
Author(s):  
Suleyman Nahit Sendur ◽  
Ugur Unluturk ◽  
Selcuk Dagdelen
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Metabolic Decompensation

Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis

2007 ◽  
Vol 30 (6) ◽  
pp. 989-989 ◽  
Author(s):  
E. Barkaoui ◽  
W. Cherif ◽  
N. Tebib ◽  
C. Charfeddine ◽  
F. Ben Rhouma ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Molecular Diagnosis ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Mutation Spectrum ◽  
Type Ia

Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy

2019 ◽  
Vol 23 (4) ◽  
pp. 301-305
Author(s):  
Daniel C Butler ◽  
W Bailey Glen ◽  
Cynthia Schandl ◽  
Angelina Phillips
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Periodic Acid ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Unknown Etiology ◽  
Chromosomal Microarray Analysis ◽  
Fetal Autopsy ◽  
Type Iv

Glycogen storage disease type IV (GSD IV; Andersen's disease) is a rare autosomal recessive disorder that results from defects in the GBE1 gene (3p12.2) and subsequent deficiencies of glycogen branching. We report a case of GSD IV diagnosed at autopsy in a 35 4/7 weeks gestational age female neonate that died shortly after birth. Multisystem blue, ground glass inclusions initially presumed artefactual were periodic acid-Schiff positive, diastase resistant. Chromosomal microarray analysis identified a deletion of exons 2 through 16 of the GBE1 gene and whole exome sequencing identified a nonsense mutation within exon 14, confirming the diagnosis of GSD IV. A strong index of suspicion was required determine GSD IV as the ultimate cause of death, illustrating the need for critical evaluation of postmortem artifact in the setting of fetal demise of unknown etiology and highlighting the role of postmortem molecular diagnostics in a subset of cases.

Rapid detection of glycogen storage disease type Ia by DNA microarray

2010 ◽  
Vol 48 (9) ◽  
Author(s):  
Shanshan Xu ◽  
Shengying Qin ◽  
Xuefan Gu ◽  
Wenjuan Qiu ◽  
Jun Ye ◽  
...  
Keyword(s):  
Dna Microarray ◽  
Glycogen Storage Disease ◽  
Rapid Detection ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ia

P1214 : Diet highly influences the development of hepatocellular adenomas and carcinomas in mice with glycogen storage disease type IA

2015 ◽  
Vol 62 ◽  
pp. S812
Author(s):  
J. Clar ◽  
M. Raffin ◽  
S. Gaillard ◽  
O. Beuf ◽  
G. Mithieux ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ia ◽  
Hepatocellular Adenomas

Glycogen storage disease type I a: Frequency and clinical course in Turkish children

2000 ◽  
Vol 67 (7) ◽  
pp. 497-501 ◽  
Author(s):  
Inci Nur Saltik ◽  
Hasan Özen ◽  
Gönenç Ciliv ◽  
Nurten Koçak ◽  
Aysel Yüce ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Clinical Course ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type I ◽  
Turkish Children
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