[HTML][HTML] Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia: A 6-year study
…, AM Alhashem, A Alodaib, L Alahaideb… - Saudi Medical …, 2020 - ncbi.nlm.nih.gov
Objectives: To determine the incidence of newborn screening (NBS) disorders and to study
the key performance indicators of the program. Methods: This retrospective single-center …
the key performance indicators of the program. Methods: This retrospective single-center …
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia
…, AM Alhashem, A Ali, A Lujane… - Saudi Medical …, 2020 - search.proquest.com
Objectives: To determine the incidence of newborn screening (NBS) disorders and to study
the key performance indicators of the program. Methods: This retrospective single-center …
the key performance indicators of the program. Methods: This retrospective single-center …
SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion
M Aldosary, S Baselm, M Abdulrahim, R Almass… - JIMD …, 2021 - Wiley Online Library
SLC25A42 is the main transporter of coenzyme A (CoA) into mitochondria. To date, 15
individuals have been reported to have one of two bi‐allelic homozygous missense variants in …
individuals have been reported to have one of two bi‐allelic homozygous missense variants in …
[CITATION][C] SLC25A42-associated mitochondrial encephalomyopathy report of additional founder cases and functional characterization of a novel deletion
…, B Alahideb, L Alahaideb… - EUROPEAN …, 2022 - … , 4 CRINAN ST, LONDON, N1 9XW …
