Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 30

1.

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.

Shibata N, Hasegawa Y, Yamada K, Kobayashi H, Purevsuren J, Yang Y, Dung VC, Khanh NN, Verma IC, Bijarnia-Mahay S, Lee DH, Niu DM, Hoffmann GF, Shigematsu Y, Fukao T, Fukuda S, Taketani T, Yamaguchi S.

Mol Genet Metab Rep. 2018 May 21;16:5-10. doi: 10.1016/j.ymgmr.2018.05.003. eCollection 2018 Sep.

2.

Diagnostic potential of stored dried blood spots for inborn errors of metabolism: a metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency.

Kaku N, Ihara K, Hirata Y, Yamada K, Lee S, Kanemasa H, Motomura Y, Baba H, Tanaka T, Sakai Y, Maehara Y, Ohga S.

J Clin Pathol. 2018 Oct;71(10):885-889. doi: 10.1136/jclinpath-2017-204962. Epub 2018 May 2.

PMID:
29720407
3.

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. doi: 10.1177/0300060517734123. Epub 2018 Jan 19.

4.

Medium chain acyl-CoA dehydrogenase deficiency in a premature infant.

Dobrowolski SF, Ghaloul-Gonzalez L, Vockley J.

Pediatr Rep. 2017 Nov 21;9(4):7045. doi: 10.4081/pr.2017.7045. eCollection 2017 Nov 21.

5.

Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys.

Potter BK, Hutton B, Clifford TJ, Pallone N, Smith M, Stockler S, Chakraborty P, Barbeau P, Garritty CM, Pugliese M, Rahman A, Skidmore B, Tessier L, Tingley K, Coyle D, Greenberg CR, Korngut L, MacKenzie A, Mitchell JJ, Nicholls S, Offringa M, Schulze A, Taljaard M; Canadian Inherited Metabolic Diseases Research Network.

Trials. 2017 Dec 19;18(1):603. doi: 10.1186/s13063-017-2327-3. Review.

6.

Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome.

Vengalil S, Preethish-Kumar V, Polavarapu K, Christopher R, Gayathri N, Natarajan A, Manjunath M, Nashi S, Prasad C, Nalini A.

Neuromuscul Disord. 2017 Nov;27(11):986-996. doi: 10.1016/j.nmd.2017.08.004. Epub 2017 Aug 24.

PMID:
28927828
7.

MRI in medium-chain acyl-coenzyme a dehydrogenase deficiency: neuroimaging during the first month.

Talamanca LF, Pasquini L, Napolitano A, Longo D.

J Pediatr Endocrinol Metab. 2017 Aug 28;30(8):905-908. doi: 10.1515/jpem-2017-0045.

PMID:
28753542
8.

Unveiling the Pathogenic Molecular Mechanisms of the Most Common Variant (p.K329E) in Medium-Chain Acyl-CoA Dehydrogenase Deficiency by in Vitro and in Silico Approaches.

Bonito CA, Nunes J, Leandro J, Louro F, Leandro P, Ventura FV, Guedes RC.

Biochemistry. 2016 Dec 27;55(51):7086-7098. doi: 10.1021/acs.biochem.6b00759. Epub 2016 Dec 15.

PMID:
27976856
9.

Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders.

van Eunen K, Volker-Touw CM, Gerding A, Bleeker A, Wolters JC, van Rijt WJ, Martines AM, Niezen-Koning KE, Heiner RM, Permentier H, Groen AK, Reijngoud DJ, Derks TG, Bakker BM.

BMC Biol. 2016 Dec 7;14(1):107.

10.

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. doi: 10.1016/j.ymgme.2016.10.007. Epub 2016 Oct 21.

PMID:
27856190
11.

Fatty Acid Beta-Oxidation Disorders: A Brief Review.

Vishwanath VA.

Ann Neurosci. 2016 Mar;23(1):51-5. doi: 10.1159/000443556. Epub 2016 Mar 11. Review.

12.

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; Inborn Errors of Metabolism Collaborative.

Mol Genet Metab. 2016 Sep;119(1-2):75-82. doi: 10.1016/j.ymgme.2016.07.002. Epub 2016 Jul 15.

13.

Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.

Narravula A, Garber KB, Askree SH, Hegde M, Hall PL.

Genet Med. 2017 Jan;19(1):77-82. doi: 10.1038/gim.2016.67. Epub 2016 Jun 16.

PMID:
27308838
14.

cis-4-Decenoic and decanoic acids impair mitochondrial energy, redox and Ca(2+) homeostasis and induce mitochondrial permeability transition pore opening in rat brain and liver: Possible implications for the pathogenesis of MCAD deficiency.

Amaral AU, Cecatto C, da Silva JC, Wajner A, Godoy KDS, Ribeiro RT, Wajner M.

Biochim Biophys Acta. 2016 Sep;1857(9):1363-1372. doi: 10.1016/j.bbabio.2016.05.007. Epub 2016 May 27.

15.

Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency.

Ahrens-Nicklas RC, Pyle LC, Ficicioglu C.

Genet Med. 2016 Dec;18(12):1315-1319. doi: 10.1038/gim.2016.49. Epub 2016 May 5.

16.

Insights into Medium-chain Acyl-CoA Dehydrogenase Structure by Molecular Dynamics Simulations.

Bonito CA, Leandro P, Ventura FV, Guedes RC.

Chem Biol Drug Des. 2016 Aug;88(2):281-92. doi: 10.1111/cbdd.12755. Epub 2016 Apr 8.

PMID:
26992026
17.

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. doi: 10.1016/j.ymgme.2015.12.011. Epub 2015 Dec 29.

PMID:
26947917
18.

Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T.

Drendel HM, Pike JE, Schumacher K, Ouyang K, Wang J, Stuy M, Dlouhy S, Bai S.

Case Rep Genet. 2015;2015:532090. doi: 10.1155/2015/532090. Epub 2015 Dec 22.

19.

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening.

GrĂ¼nert SC, Wehrle A, Villavicencio-Lorini P, Lausch E, Vetter B, Schwab KO, Tucci S, Spiekerkoetter U.

BMC Med Genet. 2015 Jul 30;16:56. doi: 10.1186/s12881-015-0199-5.

20.

Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Adulthood: A Potential Diagnosis in a Patient with Mental Status Changes Suspected of Drug Toxicity.

Randall M, Rolf C, Gibson SM, Hall PL, Rinaldo P, Davis GJ.

J Forensic Sci. 2015 Jul;60(4):1101-3. doi: 10.1111/1556-4029.12808.

PMID:
26223762

Supplemental Content

Loading ...
Support Center