A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria-Reference-Cited by-同舟云学术

A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria

Published:2024-06 Issue:3 Volume:10 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Kouhashi Mutsuo¹,Yukawa Kayoko¹,Yano Naoko¹,Hagemeijer Marne C.¹,Hirata Shinya¹,Kambe Daisuke¹^ORCID,Yokoyama Atsushi¹,Yoshida Akira¹,Kora Kengo¹,de Ronde Corline J.¹,Vrieswijk Sandrien¹,van der Meijden Eric¹,Yoshida Takeshi¹^ORCID,Yamashita Hirofumi¹

Affiliation:

1. From the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200161

Reference15 articles.

1. Aspartylglucosaminuria: Clinical Presentation and Potential Therapies

2. A genomic mutational constraint map using variation in 76,156 human genomes

3. CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions

4. Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders

5. Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation