NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm-Reference-Cited by-同舟云学术

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NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm

Published:2020-01 Issue:1 Volume:51 Page:82-88
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Lipiński Patryk¹,Bogdańska Anna²,Różdżyńska‐Świątkowska Agnieszka³,Wierzbicka‐Rucińska Aldona²,Tylki‐Szymańska Anna¹

Affiliation:

1. Department of Pediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute Warsaw Poland

2. Department of Biochemistry, Radioimmunology and Experimental Medicine The Children's Memorial Health Institute Warsaw Poland

3. Anthropology Laboratory The Children's Memorial Health Institute Warsaw Poland

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12086

Reference15 articles.

1. The cytoplasmic peptide:N-glycanase (NGLY1) — Structure, expression and cellular functions

2. Deglycosylation-dependent fluorescent proteins provide unique tools for the study of ER-associated degradation

3. Clinical application of exome sequencing in undiagnosed genetic conditions

4. Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry

Cited by 17 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. Functional prediction of the potential NGLY1 mutations associated with rare disease CDG;Heliyon;2024-04

2. Quantifying Kinematic Tremor in an NGLY1-Deficient Individual: A Case Study;Case Reports in Clinical Medicine;2024

3. NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry;Orphanet Journal of Rare Diseases;2022-12-17

4. Clinical and genetic characterization of patients segregating variants in KPTN , MINPP1 , NGLY1 , AP4B1 , and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion;International Journal of Developmental Neuroscience;2022-10-11

5. Comprehensive Analysis of the Structure and Function of Peptide:N-Glycanase 1 and Relationship with Congenital Disorder of Deglycosylation;Nutrients;2022-04-19

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