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
1980 1
1995 1
2001 1
2004 1
2012 1
2013 1
2017 1
2018 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

7 results

Results by year

Filters applied: . Clear all
Page 1
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H. Wasim M, et al. Biochem Genet. 2018 Apr;56(1-2):7-21. doi: 10.1007/s10528-017-9825-6. Epub 2017 Nov 1. Biochem Genet. 2018. PMID: 29094226 Review.
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To …
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lea …
Dietary management of urea cycle disorders: European practice.
Adam S, Almeida MF, Assoun M, Baruteau J, Bernabei SM, Bigot S, Champion H, Daly A, Dassy M, Dawson S, Dixon M, Dokoupil K, Dubois S, Dunlop C, Evans S, Eyskens F, Faria A, Favre E, Ferguson C, Goncalves C, Gribben J, Heddrich-Ellerbrok M, Jankowski C, Janssen-Regelink R, Jouault C, Laguerre C, Le Verge S, Link R, Lowry S, Luyten K, Macdonald A, Maritz C, McDowell S, Meyer U, Micciche A, Robert M, Robertson LV, Rocha JC, Rohde C, Saruggia I, Sjoqvist E, Stafford J, Terry A, Thom R, Vande Kerckhove K, van Rijn M, van Teeffelen-Heithoff A, Wegberg Av, van Wyk K, Vasconcelos C, Vestergaard H, Webster D, White FJ, Wildgoose J, Zweers H. Adam S, et al. Mol Genet Metab. 2013 Dec;110(4):439-45. doi: 10.1016/j.ymgme.2013.09.003. Epub 2013 Sep 12. Mol Genet Metab. 2013. PMID: 24113687
RESULTS: Data for 464 patients: N-acetylglutamate synthase (NAGS) deficiency, n=10; carbamoyl phosphate synthetase (CPS1) deficiency, n=29; ornithine transcarbamoylase (OTC) deficiency, n=214; citrullinaemia, n=108; argininosuccinic aciduria (ASA), n=80; a …
RESULTS: Data for 464 patients: N-acetylglutamate synthase (NAGS) deficiency, n=10; carbamoyl phosphate synthetase (CPS1) deficien …
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.
Kamoun P, Fensom AH, Shin YS, Bakker E, Colombo JP, Munnich A, Bird S, Canini S, Huijmans JG, Chadefaux-Vekemans B, et al. Kamoun P, et al. Am J Med Genet. 1995 Jan 16;55(2):247-50. doi: 10.1002/ajmg.1320550220. Am J Med Genet. 1995. PMID: 7717428 Review.
Other diseases are, in order of frequency, argininosuccinic aciduria (75 cases), ornithine transcarbamylase defect (52 cases), carbamoylphosphate synthetase defect (8 cases), triple H (3 cases), and arginase deficiency (1 case). Only one disease (ornithine transcarb …
Other diseases are, in order of frequency, argininosuccinic aciduria (75 cases), ornithine transcarbamylase defect (52 cases), carbamoylphos …
Dietary management of urea cycle disorders: UK practice.
Adam S, Champion H, Daly A, Dawson S, Dixon M, Dunlop C, Eardley J, Evans S, Ferguson C, Jankowski C, Lowry S, MacDonald A, Maritz C, Micciche A, Robertson L, Stafford J, Terry A, Thom R, van Wyk K, Webster D, White FJ, Wildgoose J; British Inherited Metabolic Diseases Group (BIMDG) Dietitian’s Group. Adam S, et al. J Hum Nutr Diet. 2012 Aug;25(4):398-404. doi: 10.1111/j.1365-277X.2012.01259.x. Epub 2012 May 18. J Hum Nutr Diet. 2012. PMID: 22594780
RESULTS: One hundred and seventy-five patients [N-acetylglutamate synthase deficiency, n = 3; carbamoyl phosphate synthase deficiency (CPS), n = 8; ornithine transcarbamoylase deficiency (OTC), n = 75; citrullinaemia, n = 41; argininosuccinic aciduria (ASA), …
RESULTS: One hundred and seventy-five patients [N-acetylglutamate synthase deficiency, n = 3; carbamoyl phosphate synthase deficie …
Genetic approach to prenatal diagnosis in urea cycle defects.
Häberle J, Koch HG. Häberle J, et al. Prenat Diagn. 2004 May;24(5):378-83. doi: 10.1002/pd.884. Prenat Diagn. 2004. PMID: 15164414
Thirteen families were investigated, of which two were affected by N-acetylglutamate synthase deficiency, four by carbamoylphosphate synthetase 1 deficiency, one by ornithine transcarbamylase deficiency, three by argininosuccinate synthetase deficiency …
Thirteen families were investigated, of which two were affected by N-acetylglutamate synthase deficiency, four by carbamoylphosphate …
The nutritional management of urea cycle disorders.
Leonard JV. Leonard JV. J Pediatr. 2001 Jan;138(1 Suppl):S40-4;discussion S44-5. doi: 10.1067/mpd.2001.111835. J Pediatr. 2001. PMID: 11148548
Currently, the widely used standards for protein intake are probably more generous than necessary, particularly for those with the more severe variants. Most patients, except those with arginase deficiency, will need supplements of arginine, but the value of other s …
Currently, the widely used standards for protein intake are probably more generous than necessary, particularly for those with the more seve …
Properties of fetal and adult red blood cell arginase: a possible prenatal diagnostic test for arginase deficiency.
Spector EB, Kiernan M, Bernard B, Cederbaum SD. Spector EB, et al. Am J Hum Genet. 1980 Jan;32(1):79-87. Am J Hum Genet. 1980. PMID: 7361766 Free PMC article.
It is absent in the red blood cells of patients with liver arginase deficiency. The properties of the enzyme in the red cells of healthy children and adults were compared to those of the enzyme obtained from cord blood red cells of 13--20-week fetuses obtained at hy …
It is absent in the red blood cells of patients with liver arginase deficiency. The properties of the enzyme in the red cells …