Results 211 to 220 of about 3,452,999 (260)
The incidence of urea cycle disorders [PDF]
Molecular Genetics and Metabolism, 2013 A key question for urea cycle disorders is their incidence. In the United States two UCDs, argininosuccinic synthetase and lyase deficiency, are currently detected by newborn screening. We used newborn screening data on over 6million births and data from
Stefan Kolker +2 more
exaly +5 more sources
The challenge of understanding and predicting phenotypic diversity in urea cycle disorders
Journal of Inherited Metabolic Disease, 2023 The Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) are the worldwide largest databases for individuals with urea cycle disorders (UCDs) comprising longitudinal data from more ...
Stefan Kolker +2 more
exaly +2 more sources
A longitudinal study of urea cycle disorders
Molecular Genetics and Metabolism, 2014 The Urea Cycle Disorders Consortium (UCDC) is a member of the NIH funded Rare Diseases Clinical Research Network and is performing a longitudinal study of 8 urea cycle disorders (UCDs) with initial enrollment beginning in 2006. The consortium consists of
Mark L Batshaw +2 more
exaly +2 more sources
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Seminars in Neurology, 2014
The urea cycle is the primary nitrogen-disposal pathway in humans. It requires the coordinated function of six enzymes and two mitochondrial transporters to catalyze the conversion of a molecule of ammonia, the α-nitrogen of aspartate, and bicarbonate into urea.
Ileana Pacheco-Colón +2 more
exaly +5 more sources
The urea cycle is the primary nitrogen-disposal pathway in humans. It requires the coordinated function of six enzymes and two mitochondrial transporters to catalyze the conversion of a molecule of ammonia, the α-nitrogen of aspartate, and bicarbonate into urea.
Ileana Pacheco-Colón +2 more
exaly +5 more sources
Seminars in Neonatology, 2002
Most patients with urea cycle disorders who present as neonates, do so with deteriorating feeding, drowsiness and tachypnoea, following a short initial period when they appear well. The plasma ammonia should be measured at the same time as the septic screen in such patients.
J V, Leonard, A A M, Morris
openaire +3 more sources
Most patients with urea cycle disorders who present as neonates, do so with deteriorating feeding, drowsiness and tachypnoea, following a short initial period when they appear well. The plasma ammonia should be measured at the same time as the septic screen in such patients.
J V, Leonard, A A M, Morris
openaire +3 more sources
Clinical Outcomes of Neonatal Onset Proximal versus Distal Urea Cycle Disorders Do Not Differ
Journal of Pediatrics, 2013 OBJECTIVE: To compare the clinical course and outcome of patients diagnosed with one of 4 neonatal-onset urea cycle disorders (UCDs): deficiency of carbamyl phosphate synthase 1 (CPSD), ornithine transcarbamylase (OTCD), argininosuccinate synthase (ASD),
Robert McCarter, Mendel Tuchman
exaly +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.
Brendan Lee +2 more
exaly +2 more sources
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
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