Elevated homocysteine levels: What inborn errors of metabolism might we be missing?-Reference-Cited by-同舟云学术

Elevated homocysteine levels: What inborn errors of metabolism might we be missing?

Published:2022-10-22 Issue:1 Volume:191 Page:130-134
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Gonzalez Aixa¹²,Smith Geoffrey Hughes³,Gambello Michael J.¹⁴,Sokolová Jitka⁵,Kožich Viktor⁵,Li Hong¹⁴^ORCID

Affiliation:

1. Department of Human Genetics Emory University School of Medicine Atlanta Georgia USA

2. Department of Pediatrics, Genetics Section University of Arkansas for Medical Sciences and Arkansas Children's Hospital Little Rock Arkansas USA

3. Department of Pathology, Emory University Emory University School of Medicine Atlanta Georgia USA

4. Department of Pediatrics Emory University School of Medicine Atlanta Georgia USA

5. Department of Pediatrics and Inherited Metabolic Disorders Charles University‐First Faculty of Medicine and General University Hospital in Prague Prague Czechia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63001

Reference14 articles.

1. ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

2. Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

3. Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency

4. High Cysteine Diet Reduces Insulin Resistance in SHR-CRP Rats

5. Cardiovascular manifestations of intermediate and major hyperhomocysteinemia due to vitamin B12 and folate deficiency and/or inherited disorders of one-carbon metabolism: a 3.5-year retrospective cross-sectional study of consecutive patients

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