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Quoted phrase not found in phrase index: "Congenital hyperammonemia, type I"
Page 1
Citrulline in health and disease. Review on human studies.
Papadia C, Osowska S, Cynober L, Forbes A. Papadia C, et al. Clin Nutr. 2018 Dec;37(6 Pt A):1823-1828. doi: 10.1016/j.clnu.2017.10.009. Epub 2017 Oct 16. Clin Nutr. 2018. PMID: 29107336 Review.
Promising results in cardiovascular diseases and in disease-related malnutrition can now be considered sufficient to justify formal clinical exploration in these areas and in sarcopenia in general....
Promising results in cardiovascular diseases and in disease-related malnutrition can now be considered sufficient to justify formal clini …
Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy.
Khoja S, Nitzahn M, Hermann K, Truong B, Borzone R, Willis B, Rudd M, Palmer DJ, Ng P, Brunetti-Pierri N, Lipshutz GS. Khoja S, et al. Mol Genet Metab. 2018 Aug;124(4):243-253. doi: 10.1016/j.ymgme.2018.04.001. Epub 2018 Apr 12. Mol Genet Metab. 2018. PMID: 29801986 Free PMC article.
We conclude that this conditional murine model recapitulates the clinical and biochemical phenotype detected in human patients with CPS1 deficiency and will be useful to investigate ammonia-mediated neurotoxicity and for the development of cell- and gene-based therapeutic …
We conclude that this conditional murine model recapitulates the clinical and biochemical phenotype detected in human patients with C …
Long-term survival of a patient with acute neonatal-onset metabolic encephalopathy with carbamoyl phosphate synthetase 1 deficiency.
Imataka G, Ishii J, Ando Y, Yoshihara S, Takagi Y, Nitta A, Arisaka O, Yoshihara S. Imataka G, et al. Eur Rev Med Pharmacol Sci. 2020 Oct;24(19):10051-10053. doi: 10.26355/eurrev_202010_23220. Eur Rev Med Pharmacol Sci. 2020. PMID: 33090410 Free article.
OBJECTIVE: Long-term survival of patients with neonatal-onset carbamoyl-phosphate synthetase 1 deficiency (CPS1D), an autosomal recessive disorder characterized by repeated, life-threatening hyperammonemia, is rare. We describe the diagnosis and clinical management of a te …
OBJECTIVE: Long-term survival of patients with neonatal-onset carbamoyl-phosphate synthetase 1 deficiency (CPS1D), an autosomal recessive di …
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism.
Huang HP, Chien YH, Huang LM, Ni YH, Chang MH, Ho MC, Lee PH, Hwu WL. Huang HP, et al. J Formos Med Assoc. 2005 Sep;104(9):623-9. J Formos Med Assoc. 2005. PMID: 16276436
This study evaluated the outcome and viral infections after liver transplantation in young children and infants with these diseases. METHODS: The outcome of liver transplantation and clinical characteristics of the following 4 patients were assessed: 1 infant with ornithin …
This study evaluated the outcome and viral infections after liver transplantation in young children and infants with these diseases. METHODS …
15 results