Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report
Abstract Background Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare mitochondrial fatty acid oxidation (FAO) disorder that results in hypoketotic hypoglycemia and hepatic encephalopathy. It is caused by mutation in CPT1A. To date, only two symptomatic cases of CPT1A deficiency have be...
Збережено в:
| Автори: | , , |
|---|---|
| Формат: | Книга |
| Опубліковано: |
BMC,
2021-07-01T00:00:00Z.
|
| Предмети: | |
| Онлайн доступ: | Connect to this object online. |
| Теги: |
Додати тег
Немає тегів, Будьте першим, хто поставить тег для цього запису!
|
Інтернет
Connect to this object online.3rd Floor Main Library
| Шифр: |
A1234.567 |
|---|---|
| Примірник 1 | Доступно |