Intellectual functioning in alpha‐mannosidosis-Reference-Cited by-同舟云学术

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Intellectual functioning in alpha‐mannosidosis

Published:2019-09-21 Issue:1 Volume:50 Page:44-49
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Cathey Sara S.¹^ORCID,Sarasua Sara M.¹²^ORCID,Simensen Richard¹,Pietris Katie³,Kimbrell Gordon⁴,Sillence David⁵,Wilson Callum⁶,Horowitz Lucia¹

Affiliation:

1. Greenwood Genetic Center Greenwood South Carolina

2. Clemson UniversitySchool of Nursing Clemson South Carolina

3. InSite Solutions Washington District of Columbia

4. Private Practice Mt Pleasant South Carolina

5. Genetic Medicine, Westmead Hospital, Westmead and Genomic Medicine, Faculty of Medicine and HealthUniversity of Sydney New South Wales Australia

6. Starship Children's Hospital Auckland New Zealand

Funder

National Center for Advancing Translational Sciences

National MPS Society

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12073

Reference27 articles.

1. Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

2. Alpha-Mannosidosis: Therapeutic Strategies

3. Alpha-mannosidosis

4. Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients

Cited by 8 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. Diagnosis of alpha-Mannosidosis: Practical approaches to reducing diagnostic delays in this ultra-rare disease;Molecular Genetics and Metabolism;2024-05

2. Molecular basis of neurocognitive dysfunction and psychosis in Alpha-Mannosidosis;Journal of Translational Genetics and Genomics;2024-03-20

3. Accounting for cis-regulatory constraint prioritizes genes likely to affect species-specific traits;Genome Biology;2023-01-19

4. Die α-Mannosidose: eine seltene, aber unterdiagnostizierte Erkrankung?;Monatsschrift Kinderheilkunde;2022-09-20

5. Glycoproteinoses;Lysosomal Storage Disorders;2022-07-21

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