Null mutations and lethal congenital form of glycogen storage disease type IV

2007 ◽  
Vol 361 (2) ◽  
pp. 445-450 ◽  
Author(s):  
Stefania Assereto ◽  
Otto P. van Diggelen ◽  
Luisa Diogo ◽  
Eva Morava ◽  
Denise Cassandrini ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Congenital Form ◽  
Type Iv

Congenital form of glycogen storage disease type IV: A case report and a review of the literature

2004 ◽  
Vol 46 (4) ◽  
pp. 474-477 ◽  
Author(s):  
Keinchi Maruyama ◽  
Tomoko Suzuki ◽  
Takenobu Koizumi ◽  
Hideo Sugie ◽  
Tokiko Fukuda ◽  
...  
Keyword(s):  
Case Report ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Review Of The Literature ◽  
Congenital Form ◽  
Type Iv

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.

Non-lethal congenital hypotonia due to glycogen storage disease type IV

2006 ◽  
Vol 140A (8) ◽  
pp. 878-882 ◽  
Author(s):  
T. Andrew Burrow ◽  
Robert J. Hopkin ◽  
Kevin E. Bove ◽  
Lili Miles ◽  
Brenda L. Wong ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iv

A neonatal form of glycogen storage disease type IV

Neurology ◽  
2003 ◽  
Vol 61 (3) ◽  
pp. 392-394 ◽  
Author(s):  
M. Nambu ◽  
K. Kawabe ◽  
T. Fukuda ◽  
T. B. Okuno ◽  
S. Ohta ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iv

Fatal infantile neuromuscular presentation of glycogen storage disease type IV

2004 ◽  
Vol 14 (4) ◽  
pp. 253-260 ◽  
Author(s):  
Stacey K.H. Tay ◽  
Hasan O. Akman ◽  
Wendy K. Chung ◽  
Michael G. Pike ◽  
Francesco Muntoni ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iv

scholarly journals Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

2018 ◽  
pp. 99-104 ◽  
Author(s):  
Imre F. Schene ◽  
Christoph G. Korenke ◽  
Hidde H. Huidekoper ◽  
Ludo van der Pol ◽  
Dennis Dooijes ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Neuromuscular Disorders ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iv

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

Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV)

2016 ◽  
Vol 228 (05) ◽  
pp. 277-279
Author(s):  
A. Schänzer ◽  
D. Faas ◽  
S. Rust ◽  
T. Podskarbi ◽  
A. van Kuilenburg ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iv ◽  
Chitotriosidase Activity

PGD for glycogen storage disease type IV: Birth of healthy twins following successful clinical application of a mutation-specific protocol

2010 ◽  
Vol 30 (2) ◽  
pp. 180-182
Author(s):  
Aspasia Destouni ◽  
Christina Vrettou ◽  
Joanne Traeger-Synodinos ◽  
Stephen Davies ◽  
Minas Mastrominas ◽  
...  
Keyword(s):  
Clinical Application ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iv ◽  
Specific Protocol
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