122 related articles for article (PubMed ID: 32931185)
1. Determination of amino acid profile for argininosuccinic aciduria disorder using High-Performance Liquid Chromatography with fluorescence detection.
Salmanizadeh H; Sahi N
Acta Biochim Pol; 2020 Sep; 67(3):347-351. PubMed ID: 32931185
[TBL] [Abstract][Full Text] [Related]
2. Quantitative amino acid analysis by liquid chromatography-tandem mass spectrometry: implications for the diagnosis of argininosuccinic aciduria.
De Biase I; Liu A; Yuzyuk T; Longo N; Pasquali M
Clin Chim Acta; 2015 Mar; 442():73-4. PubMed ID: 25598409
[No Abstract] [Full Text] [Related]
3. Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia.
Mandell R; Packman S; Laframboise R; Golbus MS; Schmidt K; Workman L; Saudubray JM; Shih VE
Prenat Diagn; 1996 May; 16(5):419-24. PubMed ID: 8843999
[TBL] [Abstract][Full Text] [Related]
4. Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.
Stadler S; Gempel K; Bieger I; Pontz BF; Gerbitz KD; Bauer MF; Hofmann S
J Inherit Metab Dis; 2001 Jun; 24(3):370-8. PubMed ID: 11486903
[TBL] [Abstract][Full Text] [Related]
5. Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.
Ficicioglu C; Mandell R; Shih VE
Mol Genet Metab; 2009 Nov; 98(3):273-7. PubMed ID: 19635676
[TBL] [Abstract][Full Text] [Related]
6. Amino acid and enzyme studies of brain and other tissues in an infant with argininosuccinic aciduria.
Perry TL; Wirtz ML; Kennaway NG; Hsia YE; Atienza FC; Uemura HS
Clin Chim Acta; 1980 Aug; 105(2):257-67. PubMed ID: 7398094
[TBL] [Abstract][Full Text] [Related]
7. Spectrofluorometry, thin layer chromatography, and column high-performance liquid chromatography determination of rabeprazole sodium in the presence of its acidic and oxidized degradation products.
Osman AO
J AOAC Int; 2009; 92(5):1373-81. PubMed ID: 19916375
[TBL] [Abstract][Full Text] [Related]
8. Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children.
Chen BC; Ngu LH; Zabedah MY
Malays J Pathol; 2010 Dec; 32(2):87-95. PubMed ID: 21329179
[TBL] [Abstract][Full Text] [Related]
9. Determination of propofol using high performance liquid chromatography in whole blood with fluorescence detection.
Yarbrough J; Harvey R; Cox S
J Chromatogr Sci; 2012 Mar; 50(3):162-6. PubMed ID: 22337791
[TBL] [Abstract][Full Text] [Related]
10. Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.
Hu L; Pandey AV; Eggimann S; Rüfenacht V; Möslinger D; Nuoffer JM; Häberle J
J Biol Chem; 2013 Nov; 288(48):34599-611. PubMed ID: 24136197
[TBL] [Abstract][Full Text] [Related]
11. [Citrullinemia and argininosuccinic aciduria].
Kawamura M
Nihon Rinsho; 1978 May; Suppl():1354-5. PubMed ID: 691352
[No Abstract] [Full Text] [Related]
12. Investigation of urea cycle enzyme disorders by 1H-NMR spectroscopy.
Burns SP; Woolf DA; Leonard JV; Iles RA
Clin Chim Acta; 1992 Jul; 209(1-2):47-60. PubMed ID: 1395038
[TBL] [Abstract][Full Text] [Related]
13. Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA).
Beck NM; Johnston JP; Lemke KS; Pogacar P; Phornphutkul C
Med Health R I; 2011 May; 94(5):121-3. PubMed ID: 21710918
[No Abstract] [Full Text] [Related]
14. Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
Cathelineau L; Pham Dinh D; Briand P; Kamoun P
Hum Genet; 1981; 57(3):282-4. PubMed ID: 7250970
[TBL] [Abstract][Full Text] [Related]
15. Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic aciduria human fibroblasts.
González-Noriega A; Verduzco J; Prieto E; Velázquez A
J Inherit Metab Dis; 1980; 3(2):45-8. PubMed ID: 6777600
[TBL] [Abstract][Full Text] [Related]
16. Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity.
Glick NR; Snodgrass PJ; Schafer IA
Am J Hum Genet; 1976 Jan; 28(1):22-30. PubMed ID: 174426
[TBL] [Abstract][Full Text] [Related]
17. To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening.
Heng TYJ; Ow JR; Koh AL; Lim JSC; Ong CBK; Goh JCY; Lim JY; Chiou FK; Jamuar SS
Clin Dysmorphol; 2024 Jan; 33(1):43-49. PubMed ID: 37865865
[TBL] [Abstract][Full Text] [Related]
18. Role of the clinical laboratory in evaluation of argininosuccinate lyase deficiency.
Gallagher JV; Rifai N; Conry J; Soldin SJ
Clin Chem; 1991 Aug; 37(8):1384-9. PubMed ID: 1868599
[No Abstract] [Full Text] [Related]
19. Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.
Kleijer WJ; Garritsen VH; Linnebank M; Mooyer P; Huijmans JG; Mustonen A; Simola KO; Arslan-Kirchner M; Battini R; Briones P; Cardo E; Mandel H; Tschiedel E; Wanders RJ; Koch HG
J Inherit Metab Dis; 2002 Sep; 25(5):399-410. PubMed ID: 12408190
[TBL] [Abstract][Full Text] [Related]
20. Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in
Zhao M; Hou L; Teng H; Li J; Wang J; Zhang K; Yang L
Biomed Res Int; 2019; 2019():3530198. PubMed ID: 31183366
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
