260 related articles for article (PubMed ID: 30730842)
21. Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.
Eleftheriadou M; Medici-van den Herik E; Stuurman K; van Bever Y; Hellebrekers DMEI; van Slegtenhorst M; Ruijter G; Barakat TS
Mol Genet Genomic Med; 2021 Feb; 9(2):e1595. PubMed ID: 33432785
[TBL] [Abstract][Full Text] [Related]
22. Aspects of Newborn Screening in Isovaleric Acidemia.
Schlune A; Riederer A; Mayatepek E; Ensenauer R
Int J Neonatal Screen; 2018 Mar; 4(1):7. PubMed ID: 33072933
[TBL] [Abstract][Full Text] [Related]
23. Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
Madsen PP; Kibaek M; Roca X; Sachidanandam R; Krainer AR; Christensen E; Steiner RD; Gibson KM; Corydon TJ; Knudsen I; Wanders RJ; Ruiter JP; Gregersen N; Andresen BS
Hum Genet; 2006 Feb; 118(6):680-90. PubMed ID: 16317551
[TBL] [Abstract][Full Text] [Related]
24. An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
Lisyová J; Chandoga J; Jungová P; Repiský M; Knapková M; Machková M; Dluholucký S; Behúlová D; Šaligová J; Potočňáková Ľ; Lysinová M; Böhmer D
BMC Med Genet; 2018 Apr; 19(1):64. PubMed ID: 29678161
[TBL] [Abstract][Full Text] [Related]
25. Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
Arnold GL; Saavedra-Matiz CA; Galvin-Parton PA; Erbe R; Devincentis E; Kronn D; Mofidi S; Wasserstein M; Pellegrino JE; Levy PA; Adams DJ; Nichols M; Caggana M
Mol Genet Metab; 2010 Mar; 99(3):263-8. PubMed ID: 20036593
[TBL] [Abstract][Full Text] [Related]
26. Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Han LS; Ye J; Qiu WJ; Gao XL; Wang Y; Gu XF
J Inherit Metab Dis; 2007 Aug; 30(4):507-14. PubMed ID: 17347912
[TBL] [Abstract][Full Text] [Related]
27. Comparative studies of Acyl-CoA dehydrogenases for monomethyl branched chain substrates in amino acid metabolism.
Liu X; Wu L; Deng G; Chen G; Li N; Chu X; Li D
Bioorg Chem; 2013 Apr; 47():1-8. PubMed ID: 23474214
[TBL] [Abstract][Full Text] [Related]
28. Genotype-based databases for variants causing rare diseases.
Lanthaler B; Wieser S; Deutschmann A; Schossig A; Fauth C; Zschocke J; Witsch-Baumgartner M
Gene; 2014 Oct; 550(1):136-40. PubMed ID: 25111118
[TBL] [Abstract][Full Text] [Related]
29. [Screening and clinical analysis of isovaleric acidemia newborn in Zhejiang province].
Hu Z; Yang J; Hu L; Zhao Y; Zhang C; Yang R; Huang X
Zhejiang Da Xue Xue Bao Yi Xue Ban; 2020 Oct; 49(5):556-564. PubMed ID: 33210480
[TBL] [Abstract][Full Text] [Related]
30. Elevation of pivaloylcarnitine by sivelestat sodium in two children.
Yamada K; Kobayashi H; Bo R; Takahashi T; Hasegawa Y; Nakamura M; Ishige N; Yamaguchi S
Mol Genet Metab; 2015 Nov; 116(3):192-4. PubMed ID: 26428892
[TBL] [Abstract][Full Text] [Related]
31. Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia.
Van Hove JL; Kahler SG; Millington DS; Roe DS; Chace DH; Heales SJ; Roe CR
Pediatr Res; 1994 Jan; 35(1):96-101. PubMed ID: 8134205
[TBL] [Abstract][Full Text] [Related]
32. Surprising causes of C5-carnitine false positive results in newborn screening.
Boemer F; Schoos R; de Halleux V; Kalenga M; Debray FG
Mol Genet Metab; 2014 Jan; 111(1):52-4. PubMed ID: 24291264
[TBL] [Abstract][Full Text] [Related]
33. UPLC-MS/MS analysis of C5-acylcarnitines in dried blood spots.
Janzen N; Steuerwald U; Sander S; Terhardt M; Peter M; Sander J
Clin Chim Acta; 2013 Jun; 421():41-5. PubMed ID: 23499962
[TBL] [Abstract][Full Text] [Related]
34. Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening.
Yoo EH; Cho HJ; Ki CS; Lee SY
Clin Chem Lab Med; 2007; 45(11):1495-7. PubMed ID: 17924841
[TBL] [Abstract][Full Text] [Related]
35. Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.
Waisbren SE; Levy HL; Noble M; Matern D; Gregersen N; Pasley K; Marsden D
Mol Genet Metab; 2008; 95(1-2):39-45. PubMed ID: 18676165
[TBL] [Abstract][Full Text] [Related]
36. 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation.
Korman SH; Andresen BS; Zeharia A; Gutman A; Boneh A; Pitt JJ
Clin Chem; 2005 Mar; 51(3):610-7. PubMed ID: 15615815
[TBL] [Abstract][Full Text] [Related]
37. [Atypical course of a multiple acyl-CoA-dehydrogenase deficiency].
Rose M; Matern D; Millington DS; Lehnert W
Klin Padiatr; 1999; 211(5):413-6. PubMed ID: 10572901
[TBL] [Abstract][Full Text] [Related]
38. [Clinical and mutational study of a Chinese infant with isovaleric acidemia].
Qiu WJ; Gu XF; Ye J; Han LS; Bai HT; Wang X; Gao XL; Wang Y; Jin J; Zhang HW
Zhonghua Er Ke Za Zhi; 2008 Jul; 46(7):526-30. PubMed ID: 19099814
[TBL] [Abstract][Full Text] [Related]
39. Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway.
Luís PB; Ruiter JP; Ijlst L; Tavares de Almeida I; Duran M; Mohsen AW; Vockley J; Wanders RJ; Silva MF
Drug Metab Dispos; 2011 Jul; 39(7):1155-60. PubMed ID: 21430231
[TBL] [Abstract][Full Text] [Related]
40. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.
Koeberl DD; Young SP; Gregersen NS; Vockley J; Smith WE; Benjamin DK; An Y; Weavil SD; Chaing SH; Bali D; McDonald MT; Kishnani PS; Chen YT; Millington DS
Pediatr Res; 2003 Aug; 54(2):219-23. PubMed ID: 12736383
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]