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1986 1
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Arginase deficiency-An unheralded cause of developmental epileptic encephalopathy.
Pavuluri H, Jose M, Fasaludeen A, Sundaram S, Radhakrishnan A, Banerjee M, Menon RN. Pavuluri H, et al. Epileptic Disord. 2023 Aug;25(4):556-561. doi: 10.1002/epd2.20081. Epub 2023 May 31. Epileptic Disord. 2023. PMID: 37243436
In the absence of an overt antecedent in a child with spasticity and seizure disorder, with a progressive course consistent with a developmental epileptic encephalopathy, arginase deficiency merits consideration. ...
In the absence of an overt antecedent in a child with spasticity and seizure disorder, with a progressive course consistent with a de …
Hyperargininemia due to liver arginase deficiency.
Crombez EA, Cederbaum SD. Crombez EA, et al. Mol Genet Metab. 2005 Mar;84(3):243-51. doi: 10.1016/j.ymgme.2004.11.004. Epub 2004 Dec 19. Mol Genet Metab. 2005. PMID: 15694174 Review.
With adherence to a dietary and drug regimen, a favorable outcome can be expected, with cessation of further neurological deterioration and in some instances, of improvement. This article summarizes the clinical course of selected patients who represent the full spectrum o …
With adherence to a dietary and drug regimen, a favorable outcome can be expected, with cessation of further neurological deterioration and …
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
Waisbren SE, Cuthbertson D, Burgard P, Holbert A, McCarter R, Cederbaum S; Members of the Urea Cycle Disorders Consortium. Waisbren SE, et al. J Inherit Metab Dis. 2018 Jul;41(4):657-667. doi: 10.1007/s10545-017-0132-5. Epub 2018 Feb 8. J Inherit Metab Dis. 2018. PMID: 29423830 Free PMC article.
The greatest deficits were noted in visual performance and motor skills for all groups. While ammonia levels remain prominent as prognostic biomarkers, other biomarkers may be equally valuable as correlates of neuropsychological functioning. ...
The greatest deficits were noted in visual performance and motor skills for all groups. While ammonia levels remain prominent as prognost …
Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isozyme.
Grody WW, Kern RM, Klein D, Dodson AE, Wissman PB, Barsky SH, Cederbaum SD. Grody WW, et al. Hum Genet. 1993 Mar;91(1):1-5. doi: 10.1007/BF00230212. Hum Genet. 1993. PMID: 8454280
These findings indicate that, despite their more long-lived course, patients with arginase deficiency remain vulnerable to the same catastrophic events of hyperammonemia that patients with other urea cycle disorders typically suffer in infancy. ...
These findings indicate that, despite their more long-lived course, patients with arginase deficiency remain vulnerable to the same c …
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.
Burrage LC, Thistlethwaite L, Stroup BM, Sun Q, Miller MJ, Nagamani SCS, Craigen W, Scaglia F, Sutton VR, Graham B, Kennedy AD; Members of the UCDC,; Milosavljevic A, Lee BH, Elsea SH. Burrage LC, et al. Genet Med. 2019 Sep;21(9):1977-1986. doi: 10.1038/s41436-019-0442-0. Epub 2019 Jan 23. Genet Med. 2019. PMID: 30670878 Free PMC article.
We aimed to test whether untargeted metabolomic analysis in plasma might be useful for monitoring the disease course and management of urea cycle disorders (UCDs). METHODS: Untargeted mass spectrometry-based metabolomic analysis was used to generate z-scores for more than …
We aimed to test whether untargeted metabolomic analysis in plasma might be useful for monitoring the disease course and management o …
Prenatal diagnosis for arginase deficiency: a case study.
Hewson S, Clarke JT, Cederbaum S. Hewson S, et al. J Inherit Metab Dis. 2003;26(6):607-10. doi: 10.1023/a:1025964401618. J Inherit Metab Dis. 2003. PMID: 14605507
Testing for arginase activity assay in red blood cells, isolated by cordocentesis, was performed and predicted an unaffected fetus. The result was confirmed by postnatal enzyme analysis of red cells from the newborn. ...
Testing for arginase activity assay in red blood cells, isolated by cordocentesis, was performed and predicted an unaffected fetus. T …
A new case of arginase deficiency in a Spanish male.
Jordá A, Rubio V, Portolés M, Vilas J, García-Piño J. Jordá A, et al. J Inherit Metab Dis. 1986;9(4):393-7. doi: 10.1007/BF01800491. J Inherit Metab Dis. 1986. PMID: 3104676
From a study of the pedigree it appears that arginase deficiency in this family presents a dramatic course....
From a study of the pedigree it appears that arginase deficiency in this family presents a dramatic course....