Recent Publications on Carbamoyl-Phosphate Synthase I Deficiency Disease: |  |
High-volume continuous venovenous hemofiltration as an effective therapy for acute management of inborn errors of metabolism in young children.
BACKGROUND/AIM: Renal replacement therapies (RRTs) have been used for the...
Direct Link | 16th October, 2007
| Division of Pediatric Nephrology, Department of Pediatrics, National
|
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
Carbamoylphosphate synthetase I deficiency (CPS1D) is a urea-cycle...
Direct Link | 4th July, 2007
| Department of Pediatrics, Kyoto University Hospital, 54 Shogoin Sakyo,
|
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.
BACKGROUND: The combination of intravenous sodium phenylacetate and sodium...
Direct Link | 6th June, 2007
| Department of Pediatrics, Division of Medical Genetics, Stanford
|
The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency.
CPSI deficiency is an inborn error of metabolism caused by mutations in...
Direct Link | 1st November, 2006
| Vanderbilt University, Center for Human Genetic Research, Department of
|
Carbamyl phosphate synthase deficiency: diagnosed during pregnancy in a 41-year-old.
Carbamyl phosphate synthase deficiency (CPS) is a rare urea cycle defect....
Direct Link | 4th October, 2006
| Department of Neurology, The Royal Brisbane Hospital, Brisbane, Australia.
|
Genetic counseling issues in urea cycle disorders.
The goal of counseling families that have a urea cycle disorder (UCD) is...
Direct Link | 27th January, 2006
| Department of Pediatrics, Division of Genetics and Development, University
|
Unmasked adult-onset urea cycle disorders in the critical care setting.
Most often, urea cycle disorders have been described as acute onset...
Direct Link | 27th January, 2006
| Center for Human Genetic Research, Division of Medical Genetics,
|
| Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism.
| 21st December, 2005
| Department of Pediatrics, National Taiwan University Hospital and National
|
Understanding carbamoyl phosphate synthetase deficiency: impact of clinical mutations on enzyme functionality.
Carbamoyl phosphate synthetase I (CPSI) deficiency, a recessively...
Direct Link | 23rd June, 2005
| Centro de Investigacion Principe Felipe, FVIB, Avda. Autopisca del Saler,
|
| Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.
| 6th May, 2005
| Department of Neurology, Institute of Neurological Sciences, Tottori
|
Brain glutamine by MRS in a patient with urea cycle disorder and coma.
In patients who undergo metabolic decompensation from urea cycle...
Direct Link | 29th April, 2005
| Department of Pediatrics, the University of Michigan School of Medicine,
|
Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I.
Carbamyl phosphate synthetase I (CPSI) determines the rate-limiting entry...
Direct Link | 17th February, 2005
| Division of Medical Genetics, Department of Pediatrics and Molecular
|
Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency.
Urea cycle defects (UCDs) typically present with hyperammonemia, the...
Direct Link | 16th February, 2005
| Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas,
|
Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency).
A de novo deletion of the long arm of chromosome 2 at 2q31-33 was observed...
Direct Link | 26th January, 2005
| Department of Pediatrics, Johns Hopkins University, Baltimore, MD, USA.
|
| Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism.
| 16th December, 2004
| Department of Molecular and Human Genetics, Children's Nutritional
|
