Literature DB >> 16421867

Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening.

Sabrina Malvagia, Giancarlo La Marca, Bruno Casetta, Serena Gasperini, Elisabetta Pasquini, Maria Alice Donati, Enrico Zammarchi.   

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Year:  2006        PMID： 16421867     DOI： 10.1002/jms.964

Source DB:  PubMed          Journal:  J Mass Spectrom        ISSN： 1076-5174            Impact factor:   1.982


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  4 in total

1.  Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.

Authors:  Rebecca C Ahrens-Nicklas; Rebecca D Ganetzky; Peggy W Rush; Robert L Conway; Can Ficicioglu
Journal:  J Inherit Metab Dis       Date:  2019-01       Impact factor: 4.982

Review 2.  Update and new concepts in vitamin responsive disorders of folate transport and metabolism.

Authors:  David Watkins; David S Rosenblatt
Journal:  J Inherit Metab Dis       Date:  2011-11-23       Impact factor: 4.982

3.  Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.

Authors:  Ramanath Majumdar; Andrew Yori; Peggy W Rush; Kimiyo Raymond; Dimitar Gavrilov; Silvia Tortorelli; Dietrich Matern; Piero Rinaldo; Gerald L Feldman; Devin Oglesbee
Journal:  Mol Genet Genomic Med       Date:  2017-09-11       Impact factor: 2.183

4.  Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Authors:  Marcus J Miller; Kristina Cusmano-Ozog; Devin Oglesbee; Sarah Young
Journal:  Genet Med       Date:  2020-10-19       Impact factor: 8.822
  4 in total

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