"Overcoming barriers: new developments and future directions for urea cycle disorders.". Introduction.
نویسنده
چکیده
منابع مشابه
Clinical and Biochemical Characterizations of Pediatric Patients with Urea Cycle Disorders in Upper Egypt: A Case- Control Study
Background: The diagnosis of inborn errors of metabolism is generally challenging. We aimed to explore various types of urea cycle disorders (UCDs), and their clinical presentations and biochemical findings among Egyptian pediatric patients. Materials and Methods: This case-control study was conducted on 86 participants categorized into ...
متن کاملCurrent strategies for the management of neonatal urea cycle disorders.
The treatment of newborns with urea cycle disorders has evolved over the years into a complex multidisciplinary effort. The complexity derives from the number of issues that must be addressed simultaneously. At the Urea Cycle Disorders Consensus Meeting held in Washington, D.C., a panel of physicians and other professionals with extensive experience in this field was assembled to bring some sys...
متن کاملUrea-cycle disorders as a paradigm for inborn errors of hepatocyte metabolism.
Urea-cycle disorders (UCDs) are a group of inborn errors of hepatocyte metabolism that are caused by the loss of enzymes involved in the process of transferring nitrogen from ammonia to urea, via the urea cycle (UC). Recent genetic analyses of inherited disorders that present with hyperammonemia demonstrate the function of cellular transporters that regulate the availability of UC intermediates...
متن کاملChallenges for providing health care in traumatized populations: barriers for PTSD treatments and the need for new developments
There is a growing recognition about the effects of traumatic experiences on mental health worldwide. With ongoing conflicts, natural disasters, interpersonal violence, and other traumatic events it is estimated that approximately 70% of the global population have been exposed to at least one lifetime traumatic experience. Research shows a substantial proportion of survivors, especially in low-...
متن کاملHyperammonemic encephalopathy in an adenocarcinoma patient managed with carglumic acid.
Hyperammonemic encephalopathy (he) is a rare complication of malignancy and chemotherapy. Although the cause of he is unclear, a functional arginine deficiency secondary to increased catabolism has been suggested as a possible mechanism. Either that deficiency or an undetermined metabolite could lead to inhibition of N-acetylglutamate synthase (nags), a urea cycle enzyme, resulting in hyperammo...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Molecular genetics and metabolism
دوره 100 Suppl 1 شماره
صفحات -
تاریخ انتشار 2010