434 related articles for article (PubMed ID: 27216769)
1. Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias.
Al-Dirbashi OY; McIntosh N; Chakraborty P
J Med Screen; 2017 Jun; 24(2):58-61. PubMed ID: 27216769
[TBL] [Abstract][Full Text] [Related]
2. Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.
Monostori P; Klinke G; Richter S; Baráth Á; Fingerhut R; Baumgartner MR; Kölker S; Hoffmann GF; Gramer G; Okun JG
PLoS One; 2017; 12(9):e0184897. PubMed ID: 28915261
[TBL] [Abstract][Full Text] [Related]
3. Determination of methylmalonic acid, 2-methylcitric acid, and total homocysteine in dried blood spots by liquid chromatography-tandem mass spectrometry: A reliable follow-up method for propionylcarnitine-related disorders in newborn screening.
Hu Z; Yang J; Lin Y; Wang J; Hu L; Zhang C; Zhang Y; Huang X
J Med Screen; 2021 Jun; 28(2):93-99. PubMed ID: 32615850
[TBL] [Abstract][Full Text] [Related]
4. Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry.
la Marca G; Malvagia S; Pasquini E; Innocenti M; Donati MA; Zammarchi E
Clin Chem; 2007 Jul; 53(7):1364-9. PubMed ID: 17510301
[TBL] [Abstract][Full Text] [Related]
5. Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.
Malvagia S; Haynes CA; Grisotto L; Ombrone D; Funghini S; Moretti E; McGreevy KS; Biggeri A; Guerrini R; Yahyaoui R; Garg U; Seeterlin M; Chace D; De Jesus VR; la Marca G
Clin Chim Acta; 2015 Oct; 450():342-8. PubMed ID: 26368264
[TBL] [Abstract][Full Text] [Related]
6. Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
Maines E; Catesini G; Boenzi S; Mosca A; Candusso M; Dello Strologo L; Martinelli D; Maiorana A; Liguori A; Olivieri G; Taurisano R; Piemonte F; Rizzo C; Spada M; Dionisi-Vici C
J Inherit Metab Dis; 2020 Nov; 43(6):1173-1185. PubMed ID: 32681732
[TBL] [Abstract][Full Text] [Related]
7. [Analysis of propionylcarnitine in blood and methylmalonic acid in urine of 162 patients with methylmalonic acidemia].
Wu SN; Han LS; Ye J; Qiu WJ; Zhang HW; Gao XL; Wang Y; Li XY; Xu H; Gu XF
Zhonghua Yi Xue Za Zhi; 2013 Feb; 93(8):561-5. PubMed ID: 23663331
[TBL] [Abstract][Full Text] [Related]
8. Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry.
Turgeon CT; Magera MJ; Cuthbert CD; Loken PR; Gavrilov DK; Tortorelli S; Raymond KM; Oglesbee D; Rinaldo P; Matern D
Clin Chem; 2010 Nov; 56(11):1686-95. PubMed ID: 20807894
[TBL] [Abstract][Full Text] [Related]
9. A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy.
Rossi C; Cicalini I; Rizzo C; Zucchelli M; Consalvo A; Valentinuzzi S; Semeraro D; Gasparroni G; Brindisino P; Gazzolo D; Dionisi-Vici C; De Laurenzi V; Pieragostino D
Int J Environ Res Public Health; 2020 May; 17(10):. PubMed ID: 32443888
[TBL] [Abstract][Full Text] [Related]
10. Analysis of 2-methylcitric acid, methylmalonic acid, and total homocysteine in dried blood spots by LC-MS/MS for application in the newborn screening laboratory: A dual derivatization approach.
Dubland JA; Rakić B; Vallance H; Sinclair G
J Mass Spectrom Adv Clin Lab; 2021 Apr; 20():1-10. PubMed ID: 34820666
[TBL] [Abstract][Full Text] [Related]
11. Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
Weiss KJ; Röschinger W; Blessing H; Lotz-Havla AS; Schiergens KA; Maier EM
Ann Nutr Metab; 2020; 76(4):268-276. PubMed ID: 32683363
[TBL] [Abstract][Full Text] [Related]
12. Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria.
Shigematsu Y; Hata I; Tajima G
J Inherit Metab Dis; 2010 Oct; 33(Suppl 2):S283-8. PubMed ID: 20440648
[TBL] [Abstract][Full Text] [Related]
13. Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia.
Naylor G; Sweetman L; Nyhan WL; Hornbeck C; Griffiths J; Mörch L; Brandänge S
Clin Chim Acta; 1980 Nov; 107(3):175-83. PubMed ID: 7002368
[TBL] [Abstract][Full Text] [Related]
14. Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Weisfeld-Adams JD; Morrissey MA; Kirmse BM; Salveson BR; Wasserstein MP; McGuire PJ; Sunny S; Cohen-Pfeffer JL; Yu C; Caggana M; Diaz GA
Mol Genet Metab; 2010 Feb; 99(2):116-23. PubMed ID: 19836982
[TBL] [Abstract][Full Text] [Related]
15. Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
Martín-Rivada Á; Cambra Conejero A; Martín-Hernández E; Moráis López A; Bélanger-Quintana A; Cañedo Villarroya E; Quijada-Fraile P; Bellusci M; Chumillas Calzada S; Bergua Martínez A; Stanescu S; Martínez-Pardo Casanova M; Ruíz-Sala P; Ugarte M; Pérez González B; Pedrón-Giner C
J Pediatr Endocrinol Metab; 2022 Oct; 35(10):1223-1231. PubMed ID: 36112821
[TBL] [Abstract][Full Text] [Related]
16. Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias.
Al Dhahouri N; Langhans CD; Al Hammadi Z; Okun JG; Hoffmann GF; Al-Jasmi F; Al-Dirbashi OY
Clin Chim Acta; 2018 Dec; 487():41-45. PubMed ID: 30217751
[TBL] [Abstract][Full Text] [Related]
17. [Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].
Huang Z; Han LS; Ye J; Qiu WJ; Zhang HW; Gao XL; Wang Y; Ji WJ; Li XY; Gu XF
Zhonghua Er Ke Za Zhi; 2013 Mar; 51(3):194-8. PubMed ID: 23751581
[TBL] [Abstract][Full Text] [Related]
18. Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
Van Calcar SC; Baker MW; Williams P; Jones SA; Xiong B; Thao MC; Lee S; Yang MK; Rice GM; Rhead W; Vockley J; Hoffman G; Durkin MS
Mol Genet Metab; 2013; 110(1-2):111-5. PubMed ID: 23712021
[TBL] [Abstract][Full Text] [Related]
19. 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.
Dionisi-Vici C; Deodato F; Röschinger W; Rhead W; Wilcken B
J Inherit Metab Dis; 2006; 29(2-3):383-9. PubMed ID: 16763906
[TBL] [Abstract][Full Text] [Related]
20. Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme.
Pajares-García S; González de Aledo-Castillo JM; Flores-Jiménez JE; Collado T; Pérez J; Paredes-Fuentes AJ; Argudo-Ramírez A; López-Galera RM; Prats B; García-Villoria J
Clin Chem Lab Med; 2024 Feb; 62(3):493-505. PubMed ID: 37794778
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]