A cross‐sectional natural history study of aspartylglucosaminuria-Reference-Cited by-同舟云学术

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A cross‐sectional natural history study of aspartylglucosaminuria

Published:2022-07-14 Issue:5 Volume:63 Page:425-433
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Goodspeed Kimberly¹²³⁴^ORCID,Horton Daniel²⁴,Lowden Andrea¹²³^ORCID,Sguigna Peter V.³^ORCID,Booth Timothy²⁵,Wang Zhiyue J.²⁵,Edgar Veronica Bordes¹²⁴

Affiliation:

1. Department of Pediatrics University of Texas Southwestern Medical Center Dallas Texas USA

2. Children's Health Dallas Dallas Texas USA

3. Department of Neurology University of Texas Southwestern Medical Center Dallas Texas USA

4. Department of Psychiatry University of Texas Southwestern Medical Center Dallas Texas USA

5. Department of Radiology University of Texas Southwestern Medical Center Dallas Texas USA

Funder

University of Texas Southwestern Medical Center

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12294

Reference38 articles.

1. Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions

2. Aspartylglycosaminuria: a review

3. Cloning and sequence analysis of a cDNA for human glycosylasparaginase

4. Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.

5. Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase.

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Neuropsychological assessment in rare pediatric neurogenetic disorders: considerations for cross-cultural clinical research;Child Neuropsychology;2023-11-20

2. Topological Structural Brain Connectivity Alterations in Aspartylglucosaminuria: A Case-Control Study;American Journal of Neuroradiology;2022-12-22

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