Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation-Reference-Cited by-同舟云学术

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation

Published:2019-03-27 Issue:5 Volume:7 Page:e634
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Ponzi Emanuela¹,Alesi Viola²,Lepri Francesca R.²^ORCID,Genovese Silvia²,Loddo Sara²,Mucciolo Mafalda²,Novelli Antonio²,Dionisi‐Vici Carlo¹,Maiorana Arianna¹^ORCID

Affiliation:

1. Division of Metabolism, Department of Pediatrics Specialties Bambino Gesù Children's Hospital Rome Italy

2. Medical Genetics Unit, Medical Genetics Laboratory Bambino Gesù Children's Hospital Rome Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.634

Reference21 articles.

1. Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility

2. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

3. Dietary management in glycogen storage disease type III: what is the evidence?

4. Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III

5. Maternal Uniparental Disomy of Chromosome 1 with No Apparent Phenotypic Effects

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1. Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III;International Journal of Endocrinology;2023-05-30

2. Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay;Clinical Case Reports;2022-07

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5. Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient;Molecular Genetics & Genomic Medicine;2021-08-18