153 related articles for article (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; 37(3):271-275. PubMed ID: 35254746
[TBL] [Abstract][Full Text] [Related]
2. 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]
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; 16(1):339. PubMed ID: 34344405
[TBL] [Abstract][Full Text] [Related]
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; 530():113-118. PubMed ID: 35367405
[TBL] [Abstract][Full Text] [Related]
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; 24(2):58-61. PubMed ID: 27216769
[TBL] [Abstract][Full Text] [Related]
6. 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]
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; 55(7):539-543. PubMed ID: 28728265
[No Abstract] [Full Text] [Related]
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; 62(3):493-505. PubMed ID: 37794778
[TBL] [Abstract][Full Text] [Related]
9. False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency.
Hennermann JB; Roloff S; Gellermann J; Grüters A; Klein J
J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S355-9. PubMed ID: 20033292
[TBL] [Abstract][Full Text] [Related]
10. Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening.
Matsumoto M; Awano H; Bo R; Nagai M; Tomioka K; Nishiyama M; Ninchouji T; Nagase H; Yagi M; Morioka I; Hasegawa Y; Takeshima Y; Iijima K
Pediatr Int; 2018 Jan; 60(1):67-69. PubMed ID: 29059480
[TBL] [Abstract][Full Text] [Related]
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; 35(10):1223-1231. PubMed ID: 36112821
[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. 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; 43(5):934-943. PubMed ID: 32216101
[TBL] [Abstract][Full Text] [Related]
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; 86(11):995-1001. PubMed ID: 31302874
[TBL] [Abstract][Full Text] [Related]
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; 18(1):215. PubMed ID: 37496092
[TBL] [Abstract][Full Text] [Related]
16. Comprehensive metabolomics analysis reveals novel biomarkers and pathways in falsely suspected glutaric aciduria Type-1 newborns.
Sabi EM; AlMogren M; Sebaa R; Sumaily KM; AlMalki R; Mujamammi AH; Abdel Rahman AM
Clin Chim Acta; 2024 Apr; 557():117861. PubMed ID: 38490341
[TBL] [Abstract][Full Text] [Related]
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; 39(4 Pt 1):680-4. PubMed ID: 8848345
[TBL] [Abstract][Full Text] [Related]
18. Measurement of free carnitine and acylcarnitines in plasma by HILIC-ESI-MS/MS without derivatization.
Peng M; Liu L; Jiang M; Liang C; Zhao X; Cai Y; Sheng H; Ou Z; Luo H
J Chromatogr B Analyt Technol Biomed Life Sci; 2013 Aug; 932():12-8. PubMed ID: 23816563
[TBL] [Abstract][Full Text] [Related]
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; 35(3):431-5. PubMed ID: 22005781
[TBL] [Abstract][Full Text] [Related]
20. Early detection of glutaric aciduria type I by newborn screening in Taiwan.
Hsieh CT; Hwu WL; Huang YT; Huang AC; Wang SF; Hu MH; Chien YH
J Formos Med Assoc; 2008 Feb; 107(2):139-44. PubMed ID: 18285246
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
