Transiently elevated plasma methionine, S ‐adenosylmethionine and S ‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation-Reference-Cited by-同舟云学术

Transiently elevated plasma methionine, S ‐adenosylmethionine and S ‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation

Published:2019-07-22 Issue:1 Volume:49 Page:21-29
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Chang Caitlin A.¹,Wei Xing‐Chang²,Martin Steven R.³⁴,Sinasac David S.¹⁴,Al‐Hertani Walla¹³⁴⁵^ORCID

Affiliation:

1. Department of Medical Genetics Cumming School of Medicine, University of Calgary Calgary Alberta Canada

2. Department of Radiology Cumming School of Medicine, University of Calgary Calgary Alberta Canada

3. Department of Pediatrics Cumming School of Medicine, University of Calgary Calgary Alberta Canada

4. Alberta Children's Hospital Research Institute University of Calgary Calgary Alberta Canada

5. Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital Boston Massachusetts

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12064

Reference19 articles.

1. Clinical application of exome sequencing in undiagnosed genetic conditions

2. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

3. Method for the Determination of Total Homocysteine in Plasma and Urine by Stable Isotope Dilution and Electrospray Tandem Mass Spectrometry

4. Simultaneous quantification of S-adenosyl methionine and S-adenosyl homocysteine in human plasma by stable-isotope dilution ultra performance liquid chromatography tandem mass spectrometry

5. Understanding Genotypes and Phenotypes in Epileptic Encephalopathies

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4. NGLY1 Deficiency: A Prospective Natural History Study (NHS);2023-05-14

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