MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessively inherited disorder of fatty acid oxidation with a potentially fatal outcome in undiagnosed patients. The introduction of tandem mass spectrometry into newborn screening (NBS) has led to the inclusion of MCADD in NBS i...
Сохранить в:
Главные авторы: | , , , , , , , , |
---|---|
Формат: | |
Опубликовано: |
MDPI AG,
2017-08-01T00:00:00Z.
|
Предметы: | |
Online-ссылка: | Connect to this object online. |
Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|
Internet
Connect to this object online.3rd Floor Main Library
Шифр: |
A1234.567 |
---|---|
Копировать 1 | Доступно |