175 related articles for article (PubMed ID: 26947917)
1. Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
Hara K; Tajima G; Okada S; Tsumura M; Kagawa R; Shirao K; Ohno Y; Yasunaga S; Ohtsubo M; Hata I; Sakura N; Shigematsu Y; Takihara Y; Kobayashi M
Mol Genet Metab; 2016 May; 118(1):9-14. PubMed ID: 26947917
[TBL] [Abstract][Full Text] [Related]
2. Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
Tajima G; Hara K; Tsumura M; Kagawa R; Okada S; Sakura N; Hata I; Shigematsu Y; Kobayashi M
Mol Genet Metab; 2016 Dec; 119(4):322-328. PubMed ID: 27856190
[TBL] [Abstract][Full Text] [Related]
3. Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.
Ensenauer R; Winters JL; Parton PA; Kronn DF; Kim JW; Matern D; Rinaldo P; Hahn SH
Genet Med; 2005; 7(5):339-43. PubMed ID: 15915086
[TBL] [Abstract][Full Text] [Related]
4. A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
Jager EA; Kuijpers MM; Bosch AM; Mulder MF; Gozalbo ER; Visser G; de Vries M; Williams M; Waterham HR; van Spronsen FJ; Schielen PCJI; Derks TGJ
J Inherit Metab Dis; 2019 Sep; 42(5):890-897. PubMed ID: 31012112
[TBL] [Abstract][Full Text] [Related]
5. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.
Derks TG; Boer TS; van Assen A; Bos T; Ruiter J; Waterham HR; Niezen-Koning KE; Wanders RJ; Rondeel JM; Loeber JG; Ten Kate LP; Smit GP; Reijngoud DJ
J Inherit Metab Dis; 2008 Feb; 31(1):88-96. PubMed ID: 18188679
[TBL] [Abstract][Full Text] [Related]
6. Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening.
Grünert SC; Wehrle A; Villavicencio-Lorini P; Lausch E; Vetter B; Schwab KO; Tucci S; Spiekerkoetter U
BMC Med Genet; 2015 Jul; 16():56. PubMed ID: 26223887
[TBL] [Abstract][Full Text] [Related]
7. Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.
Anderson DR; Viau K; Botto LD; Pasquali M; Longo N
Mol Genet Metab; 2020 Jan; 129(1):13-19. PubMed ID: 31836396
[TBL] [Abstract][Full Text] [Related]
8. Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.
Smon A; Groselj U; Debeljak M; Zerjav Tansek M; Bertok S; Avbelj Stefanija M; Trebusak Podkrajsek K; Battelino T; Repic Lampret B
J Int Med Res; 2018 Apr; 46(4):1339-1348. PubMed ID: 29350094
[TBL] [Abstract][Full Text] [Related]
9. A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.
ter Veld F; Mueller M; Kramer S; Haussmann U; Herebian D; Mayatepek E; Laryea MD; Primassin S; Spiekerkoetter U
PLoS One; 2009 Jul; 4(7):e6449. PubMed ID: 19649258
[TBL] [Abstract][Full Text] [Related]
10. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
Rhead WJ
J Inherit Metab Dis; 2006; 29(2-3):370-7. PubMed ID: 16763904
[TBL] [Abstract][Full Text] [Related]
11. Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan.
Tajima G; Sakura N; Yofune H; Nishimura Y; Ono H; Hasegawa Y; Hata I; Kimura M; Yamaguchi S; Shigematsu Y; Kobayashi M
J Chromatogr B Analyt Technol Biomed Life Sci; 2005 Sep; 823(2):122-30. PubMed ID: 16046200
[TBL] [Abstract][Full Text] [Related]
12. Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
Touw CM; Smit GP; de Vries M; de Klerk JB; Bosch AM; Visser G; Mulder MF; Rubio-Gozalbo ME; Elvers B; Niezen-Koning KE; Wanders RJ; Waterham HR; Reijngoud DJ; Derks TG
Orphanet J Rare Dis; 2012 May; 7():30. PubMed ID: 22630369
[TBL] [Abstract][Full Text] [Related]
13. Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.
Koster KL; Sturm M; Herebian D; Smits SH; Spiekerkoetter U
J Inherit Metab Dis; 2014 Nov; 37(6):917-28. PubMed ID: 24966162
[TBL] [Abstract][Full Text] [Related]
14. 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Bentler K; Zhai S; Elsbecker SA; Arnold GL; Burton BK; Vockley J; Cameron CA; Hiner SJ; Edick MJ; Berry SA;
Mol Genet Metab; 2016 Sep; 119(1-2):75-82. PubMed ID: 27477829
[TBL] [Abstract][Full Text] [Related]
15. Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.
Woo HI; Park HD; Lee YW; Lee DH; Ki CS; Lee SY; Kim JW
Korean J Lab Med; 2011 Jan; 31(1):54-60. PubMed ID: 21239873
[TBL] [Abstract][Full Text] [Related]
16. Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.
Horvath GA; Davidson AG; Stockler-Ipsiroglu SG; Lillquist YP; Waters PJ; Olpin S; Andresen BS; Palaty J; Nelson J; Vallance H
Can J Public Health; 2008; 99(4):276-80. PubMed ID: 18767270
[TBL] [Abstract][Full Text] [Related]
17. Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China.
Tian Y; Zhu X; Lv S; Jia C; Zhang L; Ni M; Xu Y; Peng R; Liu S; Zhao D
Clin Chim Acta; 2022 Nov; 536():155-161. PubMed ID: 36096209
[TBL] [Abstract][Full Text] [Related]
18. MCAD deficiency in Denmark.
Andresen BS; Lund AM; Hougaard DM; Christensen E; Gahrn B; Christensen M; Bross P; Vested A; Simonsen H; Skogstrand K; Olpin S; Brandt NJ; Skovby F; Nørgaard-Pedersen B; Gregersen N
Mol Genet Metab; 2012 Jun; 106(2):175-88. PubMed ID: 22542437
[TBL] [Abstract][Full Text] [Related]
19. Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
Al-Hassnan ZN; Imtiaz F; Al-Amoudi M; Rahbeeni Z; Al-Sayed M; Al-Owain M; Al-Zaidan H; Al-Odaib A; Rashed MS
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S263-7. PubMed ID: 20567907
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
