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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 1
1978 1
1979 1
1982 1
1987 1
1988 1
1989 1
1990 2
1993 1
1995 1
1997 1
1998 1
2001 1
2004 4
2005 1
2006 1
2007 2
2008 1
2013 1
2015 2
2019 1
2022 2
2023 2
2024 0

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28 results

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Page 1
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM. Pearson TS, et al. Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26. Mov Disord. 2019. PMID: 30913345 Review.
Arginase-1 deficiency.
Sin YY, Baron G, Schulze A, Funk CD. Sin YY, et al. J Mol Med (Berl). 2015 Dec;93(12):1287-96. doi: 10.1007/s00109-015-1354-3. Epub 2015 Oct 14. J Mol Med (Berl). 2015. PMID: 26467175 Review.
This genetic disorder is caused by 40+ mutations found fairly uniformly spread throughout the ARG1 gene, resulting in partial or complete loss of enzyme function, which catalyzes the hydrolysis of arginine to ornithine and urea. ARG1-deficient patients exhibit hyperargininemia …
This genetic disorder is caused by 40+ mutations found fairly uniformly spread throughout the ARG1 gene, resulting in partial or complete lo …
The role and control of arginine levels in arginase 1 deficiency.
Diaz GA, Bechter M, Cederbaum SD. Diaz GA, et al. J Inherit Metab Dis. 2023 Jan;46(1):3-14. doi: 10.1002/jimd.12564. Epub 2022 Oct 13. J Inherit Metab Dis. 2023. PMID: 36175366 Free PMC article. Review.
Arginase 1 Deficiency (ARG1-D) is a rare urea cycle disorder that results in persistent hyperargininemia and a distinct, progressive neurologic phenotype involving developmental delay, intellectual disability, and spasticity, predominantly affecting the lower limbs and lea …
Arginase 1 Deficiency (ARG1-D) is a rare urea cycle disorder that results in persistent hyperargininemia and a distinct, progressive …
Epilepsy and the GABA-hypothesis a brief review and some examples.
De Deyn PP, Marescau B, MacDonald RL. De Deyn PP, et al. Acta Neurol Belg. 1990;90(2):65-81. Acta Neurol Belg. 1990. PMID: 2164316 Review.
The studied endogenous convulsants were the guanidino compounds which are known to increase in uremia and hyperargininemia. PTZ and DMCM dose-dependently reduced GABA responses on mouse neurons in cell culture. ...The demonstrated effect might, in agreement with the "GABA- …
The studied endogenous convulsants were the guanidino compounds which are known to increase in uremia and hyperargininemia. PTZ and D …
Urea cycle enzymopathies.
Walser M. Walser M. Semin Liver Dis. 1982 Nov;2(4):329-39. doi: 10.1055/s-2008-1040719. Semin Liver Dis. 1982. PMID: 6763345 Review. No abstract available.
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.
Arginase catalyzes the conversion of arginine to urea and ornithine, the latter recycled to continue the cycle. Hyperargininemia due to arginase deficiency is inherited in an autosomal recessive manner and gene for arginase, designated AI, has been cloned. ...
Arginase catalyzes the conversion of arginine to urea and ornithine, the latter recycled to continue the cycle. Hyperargininemia due …
Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature.
Schlune A, Vom Dahl S, Häussinger D, Ensenauer R, Mayatepek E. Schlune A, et al. Amino Acids. 2015 Sep;47(9):1751-62. doi: 10.1007/s00726-015-2032-z. Epub 2015 Jun 27. Amino Acids. 2015. PMID: 26123990 Review.
Hyperargininemia is caused by deficiency of arginase 1, which catalyzes the hydrolysis of L-arginine to urea as the final enzyme in the urea cycle. ...
Hyperargininemia is caused by deficiency of arginase 1, which catalyzes the hydrolysis of L-arginine to urea as the final enzyme in t …
Hyperargininemia, epilepsy and the metabolism of guanidino compounds.
Wiechert P, Marescau B, De Deyn PP, Lowenthal A. Wiechert P, et al. Padiatr Grenzgeb. 1989;28(2):101-6. Padiatr Grenzgeb. 1989. PMID: 2657590 Review.
Patients with hyperargininemia have an arginase deficiency which leads to blockade of the urea cycle in the last step with several clinical symptoms. ...
Patients with hyperargininemia have an arginase deficiency which leads to blockade of the urea cycle in the last step with several cl …
Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency.
Scaglia F, Lee B. Scaglia F, et al. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):113-20. doi: 10.1002/ajmg.c.30091. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602094 Free PMC article. Review.
The latter reenters the mitochondrion to continue the cycle. Hyperargininemia is an autosomal recessive disorder caused by a defect in the arginase I enzyme. ...
The latter reenters the mitochondrion to continue the cycle. Hyperargininemia is an autosomal recessive disorder caused by a defect i …
28 results