391 related articles for article (PubMed ID: 20307994)
1. Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.
Puckett RL; Lorey F; Rinaldo P; Lipson MH; Matern D; Sowa ME; Levine S; Chang R; Wang RY; Abdenur JE
Mol Genet Metab; 2010 Jun; 100(2):136-42. PubMed ID: 20307994
[TBL] [Abstract][Full Text] [Related]
2. Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).
Oglesbee D; Sanders KA; Lacey JM; Magera MJ; Casetta B; Strauss KA; Tortorelli S; Rinaldo P; Matern D
Clin Chem; 2008 Mar; 54(3):542-9. PubMed ID: 18178665
[TBL] [Abstract][Full Text] [Related]
3. Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification.
Heldt K; Schwahn B; Marquardt I; Grotzke M; Wendel U
Mol Genet Metab; 2005 Apr; 84(4):313-6. PubMed ID: 15781191
[TBL] [Abstract][Full Text] [Related]
4. An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples.
Alodaib A; Carpenter K; Wiley V; Sim K; Christodoulou J; Wilcken B
Ann Clin Biochem; 2011 Sep; 48(Pt 5):468-70. PubMed ID: 21775576
[TBL] [Abstract][Full Text] [Related]
5. Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.
Li X; Ding Y; Liu Y; Ma Y; Song J; Wang Q; Li M; Qin Y; Yang Y
Eur J Med Genet; 2015 Nov; 58(11):617-23. PubMed ID: 26453840
[TBL] [Abstract][Full Text] [Related]
6. Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.
Couce ML; Ramos F; Bueno MA; Díaz J; Meavilla S; Bóveda MD; Fernández-Marmiesse A; García-Cazorla A
Eur J Paediatr Neurol; 2015 Nov; 19(6):652-9. PubMed ID: 26232051
[TBL] [Abstract][Full Text] [Related]
7. [Clinical characteristics and analysis of mass spectrometric data in 33 patients with maple syrup urine disease].
Yang N; Han LS; Ye J; Qiu WJ; Zhang HW; Gao XL; Wang Y; Li XY; Xu H; Gu XF
Zhonghua Yi Xue Za Zhi; 2012 Oct; 92(40):2839-42. PubMed ID: 23290213
[TBL] [Abstract][Full Text] [Related]
8. Newborn screening of maple syrup urine disease and the effect of early diagnosis.
Chen T; Lu D; Xu F; Ji W; Zhan X; Gao X; Qiu W; Zhang H; Liang L; Gu X; Han L
Clin Chim Acta; 2023 Aug; 548():117483. PubMed ID: 37421976
[TBL] [Abstract][Full Text] [Related]
9. Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
Pode-Shakked N; Korman SH; Pode-Shakked B; Landau Y; Kneller K; Abraham S; Shaag A; Ulanovsky I; Daas S; Saraf-Levy T; Reznik-Wolf H; Vivante A; Pras E; Almashanu S; Anikster Y
Eur J Med Genet; 2020 Jun; 63(6):103901. PubMed ID: 32151765
[TBL] [Abstract][Full Text] [Related]
10. Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.
O'Reilly D; Crushell E; Hughes J; Ryan S; Rogers Y; Borovickova I; Mayne P; Riordan M; Awan A; Carson K; Hunter K; Lynch B; Shahwan A; Rüfenacht V; Häberle J; Treacy EP; Monavari AA; Knerr I
J Inherit Metab Dis; 2021 May; 44(3):639-655. PubMed ID: 33300147
[TBL] [Abstract][Full Text] [Related]
11. [Maple Syrup Urine Disease in a newborn infant].
Mazur A; Sykut-Cegielska J; Ciebiera M; Trzeciak J; Taybert J; Kowalik A; Ołtarzewski M
Med Wieku Rozwoj; 2007; 11(1):65-8. PubMed ID: 17965467
[TBL] [Abstract][Full Text] [Related]
12. Diagnosis and treatment of maple syrup disease: a study of 36 patients.
Morton DH; Strauss KA; Robinson DL; Puffenberger EG; Kelley RI
Pediatrics; 2002 Jun; 109(6):999-1008. PubMed ID: 12042535
[TBL] [Abstract][Full Text] [Related]
13. Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.
Silao CL; Padilla CD; Matsuo M
Pediatr Int; 2008 Jun; 50(3):312-4. PubMed ID: 18533943
[TBL] [Abstract][Full Text] [Related]
14. Definition of the mutation responsible for maple syrup urine disease in Poll Shorthorns and genotyping Poll Shorthorns and Poll Herefords for maple syrup urine disease alleles.
Dennis JA; Healy PJ
Res Vet Sci; 1999 Aug; 67(1):1-6. PubMed ID: 10425233
[TBL] [Abstract][Full Text] [Related]
15. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry.
Chace DH; Hillman SL; Millington DS; Kahler SG; Roe CR; Naylor EW
Clin Chem; 1995 Jan; 41(1):62-8. PubMed ID: 7813082
[TBL] [Abstract][Full Text] [Related]
16. Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease.
Simon E; Fingerhut R; Baumkötter J; Konstantopoulou V; Ratschmann R; Wendel U
J Inherit Metab Dis; 2006 Aug; 29(4):532-7. PubMed ID: 16817013
[TBL] [Abstract][Full Text] [Related]
17. Quantification of branched-chain amino acids in blood spots and plasma by liquid chromatography tandem mass spectrometry for the diagnosis of maple syrup urine disease.
Sowell J; Pollard L; Wood T
J Sep Sci; 2011 Mar; 34(6):631-9. PubMed ID: 21328532
[TBL] [Abstract][Full Text] [Related]
18. Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
Khalifa OA; Imtiaz F; Ramzan K; Zaki O; Gamal R; Elbaik L; Rihan S; Salam E; Abdul-Mawgoud R; Hassan M; Hassan N; Saleh E; Seoudi D; Moustafa AS
Am J Med Genet A; 2020 Nov; 182(11):2486-2500. PubMed ID: 32812330
[TBL] [Abstract][Full Text] [Related]
19. Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β.
Bashyam MD; Chaudhary AK; Sinha M; Nagarajaram HA; Devi AR; Bashyam L; Reddy EC; Dalal A
J Cell Biochem; 2012 Oct; 113(10):3122-32. PubMed ID: 22593002
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]