<scp>ALG8‐CDG</scp> : Molecular and phenotypic expansion suggests clinical management guidelines-Reference-Cited by-同舟云学术

ALG8‐CDG : Molecular and phenotypic expansion suggests clinical management guidelines

Published:2022-06-30 Issue: Volume: Page:
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Albokhari Daniah¹²,Ng Bobby G.³,Guberinic Alis⁴,Daniel Earnest James Paul⁵,Engelhardt Nicole M.¹,Barone Rita⁶,Fiumara Agata⁷,Garavelli Livia⁸,Trimarchi Gabriele⁸,Wolfe Lynne⁹,Raymond Kimiyo M.¹⁰,Morava Eva⁴,He Miao⁵,Freeze Hudson H.³,Lam Christina¹¹¹²,Edmondson Andrew C.¹^ORCID

Affiliation:

1. Department of Pediatrics, Division of Human Genetics, Section of Metabolism The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Department of Pediatrics Taibah University College of Medicine Medina Saudi Arabia

3. Human Genetics Program Sanford Burnham Prebys La Jolla California USA

4. Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA

5. Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

6. Department of Clinical and Experimental Medicine, Division of Child Neurology and Psychiatry University of Catania Catania Italy

7. Department of Clinical and Experimental Medicine, Pediatric Clinic University of Catania Catania Italy

8. Medical Genetics Unit, Mother and Child Department, Local Health Authority (AUSL) of Reggio Emilia Research Unit (IRCCS) Arcispedale Santa Maria Nuova Reggio Emilia Italy

9. NIH Undiagnosed Diseases Program, Common Fund, Office of the Director National Institutes of Health Bethesda Maryland USA

10. Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA

11. Division of Genetic Medicine, Department of Pediatrics University of Washington School of Medicine Seattle Washington USA

12. Center of Integrated Brain Research Seattle Children's Research Institute Seattle Washington USA

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12527

Reference27 articles.

1. ChenJ LiX EdmondsonA et al (2019)Increased clinical sensitivity and specificity of plasma protein N‐glycan profiling for diagnosing congenital disorders of glycosylation by use of flow injection‐electrospray ionization‐ quadrupole time‐of‐flight mass spectrometry.

2. Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I

3. Integrating mass spectrometry of intact protein complexes into structural proteomics

4. A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

5. VarSome: the human genomic variant search engine

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