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Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience

Kuwait is a small Arabian Gulf country with a high rate of consanguinity and where a national newborn screening program was expanded in October 2014 to include a wide range of endocrine and metabolic disorders. A retrospective study conducted between January 2015 and December 2020 revealed a total o...

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Principais autores: Hind Alsharhan, Amir A. Ahmed, Naser M. Ali, Ahmad Alahmad, Buthaina Albash, Reem M. Elshafie, Sumaya Alkanderi, Usama M. Elkazzaz, Parakkal Xavier Cyril, Rehab M. Abdelrahman, Alaa A. Elmonairy, Samia M. Ibrahim, Yasser M. E. Elfeky, Doaa I. Sadik, Sara D. Al-Enezi, Ayman M. Salloum, Yadav Girish, Mohammad Al-Ali, Dina G. Ramadan, Rasha Alsafi, May Al-Rushood, Laila Bastaki
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2021-08-01
Serier:International Journal of Neonatal Screening
Fag:
classic homocystinuria
methionine
molecular testing
newborn screening
total homocysteine
incidence
Online adgang:https://www.mdpi.com/2409-515X/7/3/56
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