Results 221 to 230 of about 41,607 (263)
Some of the next articles are maybe not open access.
Treatment of Urea Cycle Disorders
Enzyme, 2017Recent advances in the treatment of inborn errors of urea synthesis have significantly decreased mortality. Treatment has included combining a high-quality low-protein diet with supplements of deficient metabolites and stimulation of alternate pathways of waste nitrogen excretion.
M L, Batshaw, P S, Monahan
openaire +2 more sources
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium
Molecular Genetics and Metabolism, 2010 The Urea Cycle Disorders Consortium (UCDC) was created as part of a larger network established by the National Institutes of Health to study rare diseases.
Jennifer Seminara +2 more
exaly +2 more sources
Hospital Practice, 1985
A major achievement of decades of research has been identification of the specific biochemical urea cycle defects responsible for the five inherited enzyme deficiencies, any of which can cause hype...
openaire +2 more sources
A major achievement of decades of research has been identification of the specific biochemical urea cycle defects responsible for the five inherited enzyme deficiencies, any of which can cause hype...
openaire +2 more sources
2016
The urea cycle is the final pathway for removal of surplus nitrogen from the body, the major route in humans for irreversible detoxification of ammonia and a source of arginine.2,3 Patients with adult-onset urea cycle disorders present with clinical symptoms that have a broad differential diagnosis (e.g., protein aversion, inappetence, cyclic vomiting,
Stefan Kölker +2 more
+5 more sources
The urea cycle is the final pathway for removal of surplus nitrogen from the body, the major route in humans for irreversible detoxification of ammonia and a source of arginine.2,3 Patients with adult-onset urea cycle disorders present with clinical symptoms that have a broad differential diagnosis (e.g., protein aversion, inappetence, cyclic vomiting,
Stefan Kölker +2 more
+5 more sources
Clinics in Liver Disease, 2000
Deficiency of any of the five enzymes in the urea cycle results in the accumulation of ammonia and leads to encephalopathy. Episodes of encephalopathy and associated symptoms are unpredictable and, if untreated, are lethal or produce devastating neurologic sequelae in long-term survivors.
openaire +2 more sources
Deficiency of any of the five enzymes in the urea cycle results in the accumulation of ammonia and leads to encephalopathy. Episodes of encephalopathy and associated symptoms are unpredictable and, if untreated, are lethal or produce devastating neurologic sequelae in long-term survivors.
openaire +2 more sources
2019
A female infant, weighing 2786 g, was born at 39 weeks gestational age with Apgar scores of 8 points at 1 min and 9 points at 5 min after birth. She had no family history of hereditary disorders. Although she had no medical problems at birth and consumed her mother’s breast milk, she developed fever with increased white blood cell counts (WBC: 22,070 ...
Kimitoshi Nakamura +2 more
openaire +2 more sources
A female infant, weighing 2786 g, was born at 39 weeks gestational age with Apgar scores of 8 points at 1 min and 9 points at 5 min after birth. She had no family history of hereditary disorders. Although she had no medical problems at birth and consumed her mother’s breast milk, she developed fever with increased white blood cell counts (WBC: 22,070 ...
Kimitoshi Nakamura +2 more
openaire +2 more sources
Progress and challenges in development of new therapies for urea cycle disorders
Human Molecular Genetics, 2019 Urea cycle disorders (UCD) are inborn errors of metabolism caused by deficiency of enzymes required to transfer nitrogen from ammonia into urea. Current paradigms of treatment focus on dietary manipulations, ammonia scavenger drugs, and orthotopic liver ...
Leandro R Soria +2 more
exaly +2 more sources
Diagnosis of Urea Cycle Disorders
Enzyme, 2017Hyperammonemia in pediatrics can be due to a number of causes (defects of urea cycle enzymes or transport of its metabolites, organic acidurias, acyl-CoA dehydrogenase or carnitine deficiency, liver bypass or nonspecific insufficiency) requiring differentiated rapid treatment for a satisfactory prognosis. The specific diagnosis cannot be established by
openaire +2 more sources
Urea-cycle disorders as a paradigm for inborn errors of hepatocyte metabolism
Trends in Molecular Medicine, 2002 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).
Brendan Lee
exaly +1 more source
Newborn Screening for Urea Cycle Disorders
Pediatrics, 1981Mass screening of newborn infants for inherited metabolic disorders began in the early 1960s with the development of the Guthrie bacterial inhibition assay for the detection of phenylketonuria (PKU).117 This simple assay utilizing dried filter paper blood specimens collected by heel prick from newborn infants has resulted in mass screening for PKU ...
openaire +3 more sources