Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1991 1
2000 1
2002 2
2007 1
2009 1
2010 1
2013 1
2014 1
2019 1
2020 1
2021 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

12 results

Results by year

Filters applied: . Clear all
Page 1
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
Balmer C, Pandey AV, Rüfenacht V, Nuoffer JM, Fang P, Wong LJ, Häberle J. Balmer C, et al. Hum Mutat. 2014 Jan;35(1):27-35. doi: 10.1002/humu.22469. Epub 2013 Nov 25. Hum Mutat. 2014. PMID: 24166829
Patients often present early after birth with hyperammonemia but can also manifest outside the neonatal period mainly triggered by excessive protein catabolism. Clinical courses comprise asymptomatic individuals who only excrete the biochemical marker, argininosuccinic aci …
Patients often present early after birth with hyperammonemia but can also manifest outside the neonatal period mainly triggered by excessive …
Chronic liver involvement in urea cycle disorders.
Ranucci G, Rigoldi M, Cotugno G, Bernabei SM, Liguori A, Gasperini S, Goffredo BM, Martinelli D, Monti L, Francalanci P, Candusso M, Parini R, Dionisi-Vici C. Ranucci G, et al. J Inherit Metab Dis. 2019 Nov;42(6):1118-1127. doi: 10.1002/jimd.12144. Epub 2019 Aug 25. J Inherit Metab Dis. 2019. PMID: 31260111
The increased survival of urea cycle disorders (UCDs) patients has led the attention to clinical manifestations that characterize the long-term disease course. Acute and chronic liver disease have been anecdotally reported since the very first description of UCDs. ...
The increased survival of urea cycle disorders (UCDs) patients has led the attention to clinical manifestations that characterize the long-t …
Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.
Ficicioglu C, Mandell R, Shih VE. Ficicioglu C, et al. Mol Genet Metab. 2009 Nov;98(3):273-7. doi: 10.1016/j.ymgme.2009.06.011. Epub 2009 Jun 25. Mol Genet Metab. 2009. PMID: 19635676 Free PMC article.
The ability to utilize (14)C-citrulline by intact fibroblasts seems to correlate with clinical outcome and may have prognostic value. It is likely that early diagnosis and treatment contributed to the relatively mild clinical course of the study group....
The ability to utilize (14)C-citrulline by intact fibroblasts seems to correlate with clinical outcome and may have prognostic value. …
Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.
Ediger K, Hicks A, Siriwardena K, Joynt C. Ediger K, et al. BMJ Case Rep. 2021 Mar 31;14(3):e241032. doi: 10.1136/bcr-2020-241032. BMJ Case Rep. 2021. PMID: 33789861 Free PMC article.
However, an index of suspicion for additional or alternative diagnoses must be maintained when the patient's presentation is out of keeping with expected manifestations and course. We present a case of a neonate with ASL deficiency and concomitant hypotonia, severe respira …
However, an index of suspicion for additional or alternative diagnoses must be maintained when the patient's presentation is out of keeping …
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
Trevisson E, Salviati L, Baldoin MC, Toldo I, Casarin A, Sacconi S, Cesaro L, Basso G, Burlina AB. Trevisson E, et al. Hum Mutat. 2007 Jul;28(7):694-702. doi: 10.1002/humu.20498. Hum Mutat. 2007. PMID: 17326097
We also performed molecular modeling using the reported three-dimensional structure of ASL to predict the functional consequences of the missense mutations. There was no genotype-phenotype correlation. ...
We also performed molecular modeling using the reported three-dimensional structure of ASL to predict the functional consequences of …
Clinical and genetic analysis of five Chinese patients with urea cycle disorders.
Zheng Z, Lin Y, Lin W, Zhu L, Jiang M, Wang W, Fu Q. Zheng Z, et al. Mol Genet Genomic Med. 2020 Jul;8(7):e1301. doi: 10.1002/mgg3.1301. Epub 2020 May 15. Mol Genet Genomic Med. 2020. PMID: 32410394 Free PMC article.
Conservation analysis showed that the amino acids of the two novel mutations were highly conserved in different species and were predicted to be possibly damaging with several in silico prediction programs. 3D-modeling analysis indicated that the two novel missense …
Conservation analysis showed that the amino acids of the two novel mutations were highly conserved in different species and were predicte …
Prospective treatment of urea cycle disorders.
Maestri NE, Hauser ER, Bartholomew D, Brusilow SW. Maestri NE, et al. J Pediatr. 1991 Dec;119(6):923-8. doi: 10.1016/s0022-3476(05)83044-6. J Pediatr. 1991. PMID: 1720458 Free article.
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.
Lee B, Yu H, Jahoor F, O'Brien W, Beaudet AL, Reeds P. Lee B, et al. Proc Natl Acad Sci U S A. 2000 Jul 5;97(14):8021-6. doi: 10.1073/pnas.140082197. Proc Natl Acad Sci U S A. 2000. PMID: 10869432 Free PMC article.
Administration of Ucephan lowered, and arginine increased, urea synthesis to the degree predicted from their respective rates of metabolism. The (15)N-urea/(15)N-glutamine ratio is a sensitive index of in vivo urea cycle activity and correlates with clinical severity. ...
Administration of Ucephan lowered, and arginine increased, urea synthesis to the degree predicted from their respective rates of meta …
12 results