293 related articles for article (PubMed ID: 31302874)
1. 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]
2. The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Schillaci LA; Greene CL; Strovel E; Rispoli-Joines J; Spector E; Woontner M; Scharer G; Enns GM; Gallagher R; Zinn AB; McCandless SE; Hoppel CL; Goodman SI; Bedoyan JK
Mol Genet Metab; 2016 Sep; 119(1-2):50-6. PubMed ID: 27397597
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. [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]
5. GAI - distinct genotype and phenotype characteristics in reported Slovak patients.
Lisyova J; Petrovic R; Jurickova K; Brennerova K; Urbanova D; Behulova D; Bzduch V; Chandoga J
Bratisl Lek Listy; 2016; 117(11):631-638. PubMed ID: 28125888
[TBL] [Abstract][Full Text] [Related]
6. Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry.
Al-Dirbashi OY; Kölker S; Ng D; Fisher L; Rupar T; Lepage N; Rashed MS; Santa T; Goodman SI; Geraghty MT; Zschocke J; Christensen E; Hoffmann GF; Chakraborty P
J Inherit Metab Dis; 2011 Feb; 34(1):173-80. PubMed ID: 20978942
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. A Korean patient with glutaric aciduria type 1 with a novel mutation in the glutaryl CoA dehydrogenase gene.
Kim HS; Yu HJ; Lee J; Park HD; Kim JH; Shin HJ; Jin DK; Lee M
Ann Clin Lab Sci; 2014; 44(2):213-6. PubMed ID: 24795062
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. (1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites.
Harting I; Boy N; Heringer J; Seitz A; Bendszus M; Pouwels PJ; Kölker S
J Inherit Metab Dis; 2015 Sep; 38(5):829-38. PubMed ID: 25860816
[TBL] [Abstract][Full Text] [Related]
11. 2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor.
Wongkittichote P; Hong X; Master SR; Kaur S; Cuddapah SR; He M
Mol Genet Metab; 2023 Apr; 138(4):107549. PubMed ID: 36913764
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.
Biagosch C; Ediga RD; Hensler SV; Faerberboeck M; Kuehn R; Wurst W; Meitinger T; Kölker S; Sauer S; Prokisch H
Biochim Biophys Acta Mol Basis Dis; 2017 Sep; 1863(9):2220-2228. PubMed ID: 28545977
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
Viau K; Ernst SL; Vanzo RJ; Botto LD; Pasquali M; Longo N
Mol Genet Metab; 2012 Aug; 106(4):430-8. PubMed ID: 22728054
[TBL] [Abstract][Full Text] [Related]
17. Neonatal screening for glutaric aciduria type I: strategies to proceed.
Lindner M; Ho S; Fang-Hoffmann J; Hoffmann GF; Kölker S
J Inherit Metab Dis; 2006; 29(2-3):378-82. PubMed ID: 16763905
[TBL] [Abstract][Full Text] [Related]
18. [Clinical and laboratory studies on 28 patients with glutaric aciduria type 1].
Wang Q; Ding Y; Liu Y; Li X; Wu T; Song J; Wang Y; Yang Y
Zhonghua Er Ke Za Zhi; 2014 Jun; 52(6):415-9. PubMed ID: 25190159
[TBL] [Abstract][Full Text] [Related]
19. Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.
Zhang Y; Li H; Ma R; Mei L; Wei X; Liang D; Wu L
Clin Chim Acta; 2016 Jan; 453():75-9. PubMed ID: 26656312
[TBL] [Abstract][Full Text] [Related]
20. Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.
Couce ML; López-Suárez O; Bóveda MD; Castiñeiras DE; Cocho JA; García-Villoria J; Castro-Gago M; Fraga JM; Ribes A
Eur J Paediatr Neurol; 2013 Jul; 17(4):383-9. PubMed ID: 23395213
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]