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150 related items for PubMed ID: 35254746

  • 1. The markers of the organic acidemias and their ratios in healthy neonates in Serbian population.
    Beletić A, Tijanić A, Chrastina P, Nikolić T, Stefanović A, Stanković S.
    Drug Metab Pers Ther; 2022 Sep 01; 37(3):271-275. PubMed ID: 35254746
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  • 3. Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening.
    Lin Y, Wang W, Lin C, Zheng Z, Fu Q, Peng W, Chen D.
    Orphanet J Rare Dis; 2021 Aug 03; 16(1):339. PubMed ID: 34344405
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  • 4. Biochemical, molecular, and clinical features of patients with glutaric acidemia type 1 identified through large-scale newborn screening in Zhejiang Province, China.
    Lin Y, Zhu X, Zhang C, Yin X, Miao H, Hu Z, Yang J, Wu B, Huang X.
    Clin Chim Acta; 2022 May 01; 530():113-118. PubMed ID: 35367405
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  • 5. 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 01; 24(2):58-61. PubMed ID: 27216769
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  • 7. [Mass spectrometry combined with gene analysis for prenatal diagnosis of glutaric acidemia type Ⅰ].
    Han F, Han LS, Ji WJ, Chen T, Xu F, Wang Y, Ye J, Qiu WJ, Zhang HW, Jiang YZ, Hou C, Gu XF.
    Zhonghua Er Ke Za Zhi; 2017 Jul 02; 55(7):539-543. PubMed ID: 28728265
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  • 8. 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 26; 62(3):493-505. PubMed ID: 37794778
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  • 11. 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 26; 35(10):1223-1231. PubMed ID: 36112821
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  • 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 26; 33(Suppl 2):S283-8. PubMed ID: 20440648
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  • 13. Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.
    Peng G, Tang Y, Gandotra N, Enns GM, Cowan TM, Zhao H, Scharfe C.
    J Inherit Metab Dis; 2020 Sep 26; 43(5):934-943. PubMed ID: 32216101
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  • 14. Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?
    Shaik M, T P KV, Kamate M, A B V.
    Indian J Pediatr; 2019 Nov 26; 86(11):995-1001. PubMed ID: 31302874
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  • 15. Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.
    Zhou J, Li G, Deng L, Zhao P, Zeng Y, Qiu X, Luo J, Xu L.
    Orphanet J Rare Dis; 2023 Jul 26; 18(1):215. PubMed ID: 37496092
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  • 17. Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines.
    Shigematsu Y, Hata I, Nakai A, Kikawa Y, Sudo M, Tanaka Y, Yamaguchi S, Jakobs C.
    Pediatr Res; 1996 Apr 26; 39(4 Pt 1):680-4. PubMed ID: 8848345
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  • 19. An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1.
    Moore T, Le A, Cowan TM.
    J Inherit Metab Dis; 2012 May 26; 35(3):431-5. PubMed ID: 22005781
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