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Items: 1 to 20 of 41

1.

Eight novel mutations detected from eight Chinese patients with isovaleric acidemia.

Li Y, Shen M, Jin Y, Liu Y, Kang L, He R, Song J, Luo L, Yang Y.

Clin Chim Acta. 2019 Nov;498:116-121. doi: 10.1016/j.cca.2019.08.019. Epub 2019 Aug 20.

PMID:
31442447
2.

Epidemiology of rare diseases detected by newborn screening in the Czech Republic.

David J, Chrastina P, Pešková K, Kožich V, Friedecký D, Adam T, Hlídková E, Vinohradská H, Novotná D, Hedelová M, Al Taji E, Holubová A, Skalická V, Macek M, Gaillyová R, Votava F.

Cent Eur J Public Health. 2019 Jun;27(2):153-159. doi: 10.21101/cejph.a5441.

3.

Unusual Metabolites in a Patient with Isovaleric Acidemia.

De Biase I, Pasquali M, Asamoah A.

Clin Chem. 2019 Apr;65(4):595-597. doi: 10.1373/clinchem.2018.300558. No abstract available.

PMID:
30923063
4.

Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.

Porta F, Chiesa N, Martinelli D, Spada M.

J Pediatr Endocrinol Metab. 2019 Feb 25;32(2):101-108. doi: 10.1515/jpem-2018-0311. Review.

PMID:
30730842
5.

Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry.

Sarker SK, Islam MT, Biswas A, Bhuyan GS, Sultana R, Sultana N, Rakhshanda S, Begum MN, Rahat A, Yeasmin S, Khanam M, Saha AK, Noor FA, Sajib AA, Islam ABMMK, Qadri SK, Shahidullah M, Mannan MA, Muraduzzaman AKM, Shirin T, Rahman SM, Qadri SS, Saha N, Akhteruzzaman S, Qadri F, Mannoor K.

Biomed Res Int. 2019 Jan 6;2019:3460902. doi: 10.1155/2019/3460902. eCollection 2019.

6.

Columbus' egg: a practical approach to nutritional management in maple syrup urine disease.

Porta F, Busso M, Giorda S, Spada M.

J Pediatr Endocrinol Metab. 2019 Jan 28;32(1):83-84. doi: 10.1515/jpem-2018-0485. No abstract available.

PMID:
30530885
7.

Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias.

Molema F, Jacobs EH, Onkenhout W, Schoonderwoerd GC, Langendonk JG, Williams M.

J Inherit Metab Dis. 2018 Nov;41(6):1179-1187. doi: 10.1007/s10545-018-0244-6. Epub 2018 Aug 29.

8.

Frequency of Inborn Errors of Metabolism in a Northeastern Iranian Sample with High Consanguinity Rates.

Keyfi F, Nasseri M, Nayerabadi S, Alaei A, Mokhtariye A, Varasteh A.

Hum Hered. 2018;83(2):71-78. doi: 10.1159/000488876. Epub 2018 Jul 24.

PMID:
30036870
9.

A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.

Fisher L, Davies C, Al-Dirbashi OY, Ten Brink HJ, Chakraborty P, Lepage N.

Clin Biochem. 2018 Apr;54:131-138. doi: 10.1016/j.clinbiochem.2018.01.020. Epub 2018 Feb 2.

10.

Selective and accurate C5 acylcarnitine quantitation by UHPLC-MS/MS: Distinguishing true isovaleric acidemia from pivalate derived interference.

Minkler PE, Stoll MSK, Ingalls ST, Hoppel CL.

J Chromatogr B Analyt Technol Biomed Life Sci. 2017 Sep 1;1061-1062:128-133. doi: 10.1016/j.jchromb.2017.07.018. Epub 2017 Jul 12.

PMID:
28734160
11.

The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism.

Evans M, Truby H, Boneh A.

J Pediatr. 2017 Sep;188:163-172. doi: 10.1016/j.jpeds.2017.05.048. Epub 2017 Jun 17.

PMID:
28629683
12.

Detection of inborn errors of metabolism utilizing GC-MS urinary metabolomics coupled with a modified orthogonal partial least squares discriminant analysis.

Yang Q, Lin SS, Yang JT, Tang LJ, Yu RQ.

Talanta. 2017 Apr 1;165:545-552. doi: 10.1016/j.talanta.2017.01.018. Epub 2017 Jan 7.

PMID:
28153297
13.

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

Couce ML, Aldamiz-Echevarría L, Bueno MA, Barros P, Belanger-Quintana A, Blasco J, García-Silva MT, Márquez-Armenteros AM, Vitoria I, Vives I, Navarrete R, Fernández-Marmiesse A, Pérez B, Pérez-Cerdá C.

J Hum Genet. 2017 Mar;62(3):355-360. doi: 10.1038/jhg.2016.144. Epub 2016 Dec 1.

PMID:
27904153
14.

Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).

Hobert JA, Liu A, Pasquali M.

Curr Protoc Hum Genet. 2016 Oct 11;91:17.25.1-17.25.12. doi: 10.1002/cphg.19.

PMID:
27727436
15.

Polyunsaturated fatty acid status in treated isovaleric acidemia patients.

Dercksen M, Kulik W, Mienie LJ, Reinecke CJ, Wanders RJ, Duran M.

Eur J Clin Nutr. 2016 Oct;70(10):1123-1126. doi: 10.1038/ejcn.2016.100. Epub 2016 Jun 22.

PMID:
27329611
16.

Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study.

Hassan FA, El-Mougy F, Sharaf SA, Mandour I, Morgan MF, Selim LA, Hassan SA, Salem F, Oraby A, Girgis MY, Mahmoud IG, El-Badawy A, El-Nekhely I, Moharam N, Mehaney DA, Elmonem MA.

J Med Screen. 2016 Sep;23(3):124-9. doi: 10.1177/0969141315618229. Epub 2016 Jan 20.

PMID:
26790708
17.

A Study on the Humoral and Complement Immune System of Patients with Organic Acidemia.

Alizadeh Najjarbashi F, Mesdaghi M, Alaei M, Shakiba M, Jami A, Ghadimi F.

Iran J Allergy Asthma Immunol. 2015 Dec;14(6):638-41.

18.

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. doi: 10.1016/j.ymgme.2015.09.009. Epub 2015 Sep 26.

PMID:
26428892
19.

An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.

Thiboonboon K, Leelahavarong P, Wattanasirichaigoon D, Vatanavicharn N, Wasant P, Shotelersuk V, Pangkanon S, Kuptanon C, Chaisomchit S, Teerawattananon Y.

PLoS One. 2015 Aug 10;10(8):e0134782. doi: 10.1371/journal.pone.0134782. eCollection 2015.

20.

Intermediaries of branched chain amino acid metabolism induce fetal hemoglobin, and repress SOX6 and BCL11A, in definitive erythroid cells.

Karkashon S, Raghupathy R, Bhatia H, Dutta A, Hess S, Higgs J, Tifft CJ, Little JA.

Blood Cells Mol Dis. 2015 Aug;55(2):161-7. doi: 10.1016/j.bcmd.2015.05.006. Epub 2015 May 27.

PMID:
26142333

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