Diagnosis of Carnitine Deficiency in Extremely Preterm Neonates Related to Parenteral Nutrition: Two Step Newborn Screening Approach

Autor: Mamatha Ramaswamy, Victor Anthony Skrinska, Rola Fayez Mitri, Ghassan Abdoh

Publikováno v: International Journal of Neonatal Screening, Vol 5, Iss 3, p 29 (2019)

Currently, there is no evidence in the literature to support the routine supplementation of all parenterally fed premature infants with l-carnitine. In our study, we found that about 8.56% of extremely preterm neonates are diagnosed with carnitine de

Externí odkaz: https://doaj.org/article/5dff1ed07a7646a3a9ef4ed596a59a09

A Rapid Screening Method for the Measurement of Neonatal Total Homocysteine in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry

Autor: Rola Fayez Mitri, Piero Rinaldo, Rose Maase, Dietrich Matern, Noura Younes, Coleman T. Turgeon, Lubna Hassan, Victor Anthony Skrinska

Publikováno v: International Journal of Neonatal Screening; Volume 3; Issue 4; Pages: 32
International Journal of Neonatal Screening, Vol 3, Iss 4, p 32 (2017)

Homocystinuria (HCU) due to cystathionine-β-synthase deficiency is generally regarded as a rare disease, but within the Qatari population has an incidence of 1 in 1800 live births. Most newborn screening methods for HCU using dried blood spots (DBS)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10926eca9b6222da4560920b8400db3a