Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 114

Similar articles for PubMed (Select 20074989)

1.

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.

Lee NC, Tang NL, Chien YH, Chen CA, Lin SJ, Chiu PC, Huang AC, Hwu WL.

Mol Genet Metab. 2010 May;100(1):46-50. doi: 10.1016/j.ymgme.2009.12.015. Epub 2009 Dec 28.

PMID:
20074989
2.

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests.

Wang LY, Chen NI, Chen PW, Chiang SC, Hwu WL, Lee NC, Chien YH.

BMC Med Genet. 2013 Feb 10;14:24. doi: 10.1186/1471-2350-14-24.

3.

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

El-Hattab AW, Li FY, Shen J, Powell BR, Bawle EV, Adams DJ, Wahl E, Kobori JA, Graham B, Scaglia F, Wong LJ.

Genet Med. 2010 Jan;12(1):19-24. doi: 10.1097/GIM.0b013e3181c5e6f7.

PMID:
20027113
4.

[Primary carnitine deficiency in 17 patients: diagnosis, treatment and follow up].

Han LS, Ye J, Qiu WJ, Zhang HW, Wang Y, Ji WJ, Gao XL, Li XY, Jin J, Gu XF.

Zhonghua Er Ke Za Zhi. 2012 Jun;50(6):405-9. Chinese.

PMID:
22931933
5.

Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.

Han L, Wang F, Wang Y, Ye J, Qiu W, Zhang H, Gao X, Gong Z, Gu X.

Eur J Med Genet. 2014 Oct;57(10):571-5. doi: 10.1016/j.ejmg.2014.08.001. Epub 2014 Aug 13.

PMID:
25132046
6.

Carnitine deficiency disorders in children.

Stanley CA.

Ann N Y Acad Sci. 2004 Nov;1033:42-51. Review.

PMID:
15591002
7.

Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency.

Fingerhut R, Ensenauer R, Röschinger W, Arnecke R, Olgemöller B, Roscher AA.

Anal Chem. 2009 May 1;81(9):3571-5. doi: 10.1021/ac8022235.

PMID:
19323528
8.

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.

Li FY, El-Hattab AW, Bawle EV, Boles RG, Schmitt ES, Scaglia F, Wong LJ.

Hum Mutat. 2010 Aug;31(8):E1632-51. doi: 10.1002/humu.21311.

PMID:
20574985
9.

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. doi: 10.1016/j.ymgme.2012.03.018. Epub 2012 Apr 4.

PMID:
22542437
10.

Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry.

Wilcken B, Wiley V, Sim KG, Carpenter K.

J Pediatr. 2001 Apr;138(4):581-4.

PMID:
11295726
11.

Expanded newborn screening identifies maternal primary carnitine deficiency.

Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, di San Filippo CA, Pasquali M, Berry SA, Longo N.

Mol Genet Metab. 2007 Apr;90(4):441-5. Epub 2006 Nov 28.

PMID:
17126586
12.

Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy.

Kinali M, Olpin SE, Clayton PT, Daubeney PE, Mercuri E, Manzur AY, Tein I, Leonard J, Muntoni F.

Eur J Paediatr Neurol. 2004;8(4):217-9.

PMID:
15261886
13.

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.

Makhseed N, Vallance HD, Potter M, Waters PJ, Wong LT, Lillquist Y, Pasquali M, Amat di San Filippo C, Longo N.

J Inherit Metab Dis. 2004;27(6):778-80.

PMID:
15617188
14.

Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.

Niu DM, Chien YH, Chiang CC, Ho HC, Hwu WL, Kao SM, Chiang SH, Kao CH, Liu TT, Chiang H, Hsiao KJ.

J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S295-305. doi: 10.1007/s10545-010-9129-z. Epub 2010 Jun 22.

PMID:
20567911
15.

Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants.

Vijay S, Patterson A, Olpin S, Henderson MJ, Clark S, Day C, Savill G, Walter JH.

J Inherit Metab Dis. 2006 Oct;29(5):627-30. Epub 2006 Jul 23.

PMID:
16865412
16.

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.

Magoulas PL, El-Hattab AW.

Orphanet J Rare Dis. 2012 Sep 18;7:68. doi: 10.1186/1750-1172-7-68. Review.

17.

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 Sep-Oct;110(1-2):111-5. doi: 10.1016/j.ymgme.2013.03.021. Epub 2013 Apr 15.

PMID:
23712021
18.

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. doi: 10.1007/s10545-010-9143-1. Epub 2010 Jun 22.

PMID:
20567907
19.

Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.

Leydiker KB, Neidich JA, Lorey F, Barr EM, Puckett RL, Lobo RM, Abdenur JE.

Mol Genet Metab. 2011 May;103(1):92-5. doi: 10.1016/j.ymgme.2011.01.011. Epub 2011 Jan 27.

PMID:
21354840
20.

Genotype-phenotype correlation in primary carnitine deficiency.

Rose EC, di San Filippo CA, Ndukwe Erlingsson UC, Ardon O, Pasquali M, Longo N.

Hum Mutat. 2012 Jan;33(1):118-23. doi: 10.1002/humu.21607. Epub 2011 Oct 11.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk