Secondary and Tertiary Prevention of Inborn Errors of Metabolism
Dátum
Szerzők
Folyóirat címe
Folyóirat ISSN
Kötet címe (évfolyam száma)
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Absztrakt
This thesis is focused on understanding inborn errors of metabolism, secondary and tertiary prevention of them, and also a feature addressing the limitations to effective management in developing world countries. Providing early recognition and intervention is essential to avoid devastating consequences associated with outcomes of the diseases.
Leírás
Kulcsszavak
Inborn Errors of Metabolism, Newborn Screening, Phenylketonuria, Maple Syrup Urine Disease, Urea Cycle Disorder, Glycogen Storage Disease, Next Generation Sequencing, In Vitro Fertilization, Expanded Carrier Screening, Non-Invasive Prenatal Diagnosis, Preimplantation Genetics, Cell-free fetal DNA