ALG11‐CDG syndrome: Expanding the phenotype-Reference-Cited by-同舟云学术

ALG11‐CDG syndrome: Expanding the phenotype

Published:2019-01-24 Issue:3 Volume:179 Page:498-502
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Haanpää Maria K.¹^ORCID,Ng Bobby G.²^ORCID,Gallant Natalie M.³⁴,Singh Kathryn E.³⁴,Brown Candida⁵,Kimonis Virginia³⁴^ORCID,Freeze Hudson H.²,Muller Eric A.⁶^ORCID

Affiliation:

1. Department of Medicine, Division of Oncology, School of MedicineStanford University Palo Alto California

2. Human Genetics ProgramSanford‐Burnham‐Prebys Medical Discovery Institute La Jolla California

3. Division of Genetics and Genomic Medicine, Department of PediatricsUniversity of California, Irvine, School of Medicine Irvine California

4. Division of GeneticsMiller Children's and Women's Hospital Long Beach California

5. Child NeurologyStanford Children's Health Palo Alto California

6. Clinical GeneticsStanford Children's Health Palo Alto California

Funder

National Institutes of Health

Instrumentariumin Tiedesäätiö

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61046

Reference12 articles.

1. Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II

2. A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2

3. Clinical and Molecular Characterization of ALG1-CDG

4. Neurology of inherited glycosylation disorders

5. Neurological Aspects of Human Glycosylation Disorders

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1. Identification of two novel variants in ALG11 causing congenital disorder of glycosylation;Seizure: European Journal of Epilepsy;2024-10

2. Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation;Molecular Genetics and Metabolism;2024-06

3. In vitro human cell culture models in a bench‐to‐bedside approach to epilepsy;Epilepsia Open;2024-04-18

4. Intracellular traffic and polarity in brain development;Frontiers in Neuroscience;2023-10-04

5. ALG11-CDG: novel variant and review of the literature;Journal of Pediatric Endocrinology and Metabolism;2023-02-28