An Unusual Peak in a Common Clinical Presentation-Reference-Cited by-同舟云学术

An Unusual Peak in a Common Clinical Presentation

Published:2021-04-28 Issue:5 Volume:67 Page:799-801
ISSN:0009-9147
Container-title:Clinical Chemistry
language:en
Short-container-title:

Author:

Sudrié-Arnaud Bénédicte¹,Snanoudj Sarah¹²,Imbard Apolline³,Dabaj Ivana²⁴,Tebani Abdellah¹²

Affiliation:

1. Department of Metabolic Biochemistry, Rouen University Hospital, Rouen, France

2. Normandie University, UNIROUEN, CHU Rouen, INSERM U1245, Rouen, France

3. Laboratoire de Biochimie-Hormonologie, Centre Hospitalo-Universitaire Robert-Debré, AP-HP, Paris, France; LIPSYS, Faculté de Pharmacie, Université Paris-Saclay, Châtenay-Malabry, France

4. Department of Neonatal Pediatrics, Intensive Care and Neuropediatrics, Rouen University Hospital, Rouen, France

Publisher

Oxford University Press (OUP)

Subject

Biochemistry, medical,Clinical Biochemistry

Link

http://academic.oup.com/clinchem/article-pdf/67/5/799/37582886/hvab012.pdf

Reference5 articles.

1. Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening;Malvagia;J Mass Spectrom,2006

2. Folic acid non-dependent formiminoglutamic aciduria in two siblings;Niederwieser;Clin Chim Acta,1974

3. Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening;Ahrens-Nicklas;J Inherit Metab Dis,2019

4. Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria;Majumdar;Mol Genet Genomic Med,2017

5. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015