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Items: 1 to 20 of 89

1.

Patterns of brain injury in inborn errors of metabolism.

Gropman AL.

Semin Pediatr Neurol. 2012 Dec;19(4):203-10. doi: 10.1016/j.spen.2012.09.007. Review.

2.

Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders.

Krishna SH, McKinney AM, Lucato LT.

Semin Ultrasound CT MR. 2014 Apr;35(2):160-91. doi: 10.1053/j.sult.2013.10.008. Epub 2013 Oct 23. Review.

PMID:
24745891
3.

Brain imaging in urea cycle disorders.

Gropman A.

Mol Genet Metab. 2010;100 Suppl 1:S20-30. doi: 10.1016/j.ymgme.2010.01.017. Epub 2010 Feb 13. Review.

4.

Inborn errors of metabolism: a cause of abnormal brain development.

Nissenkorn A, Michelson M, Ben-Zeev B, Lerman-Sagie T.

Neurology. 2001 May 22;56(10):1265-72. Review.

PMID:
11383558
5.

New frontiers in neuroimaging applications to inborn errors of metabolism.

Prust MJ, Gropman AL, Hauser N.

Mol Genet Metab. 2011 Nov;104(3):195-205. doi: 10.1016/j.ymgme.2011.06.020. Epub 2011 Jun 30. Review.

6.

Neonatal neuroimaging findings in inborn errors of metabolism.

Poretti A, Blaser SI, Lequin MH, Fatemi A, Meoded A, Northington FJ, Boltshauser E, Huisman TA.

J Magn Reson Imaging. 2013 Feb;37(2):294-312. doi: 10.1002/jmri.23693. Epub 2012 May 7. Review.

7.

Clinical neurogenetics: neurologic presentations of metabolic disorders.

Kwon JM, D'Aco KE.

Neurol Clin. 2013 Nov;31(4):1031-50. doi: 10.1016/j.ncl.2013.04.005. Epub 2013 Aug 8. Review.

PMID:
24176422
8.

Detection of Inborn Errors of Metabolism using Tandem Mass Spectrometry among High-risk Omani Patients.

Al Riyami S, Al Maney M, Joshi SN, Bayoumi R.

Oman Med J. 2012 Nov;27(6):482-5. doi: 10.5001/omj.2012.115.

9.

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

Stockler S, Schutz PW, Salomons GS.

Subcell Biochem. 2007;46:149-66. Review.

PMID:
18652076
10.

[Inborn errors of metabolism in adults].

Saudubray JM, Sedel F.

Ann Endocrinol (Paris). 2009 Mar;70(1):14-24. doi: 10.1016/j.ando.2008.12.004. French.

PMID:
19178907
11.

A neuroimaging approach to inborn errors of metabolism.

Blaser S, Feigenbaum A.

Neuroimaging Clin N Am. 2004 May;14(2):307-29, ix. Review.

PMID:
15182821
12.

[Inborn errors of metabolism in adult neurology].

Sedel F.

Rev Neurol (Paris). 2013 Feb;169 Suppl 1:S63-9. doi: 10.1016/S0035-3787(13)70062-6. Review. French.

PMID:
23452774
13.

A Japanese girl with leukoencephalopathy with vanishing white matter.

Sugiura C, Miyata H, Oka A, Takashima S, Ohama E, Takeshita K.

Brain Dev. 2001 Mar;23(1):58-61.

PMID:
11226733
14.

Inborn errors of metabolism: combining clinical and radiologic clues to solve the mystery.

Ibrahim M, Parmar HA, Hoefling N, Srinivasan A.

AJR Am J Roentgenol. 2014 Sep;203(3):W315-27. doi: 10.2214/AJR.13.11154. Review.

PMID:
25148190
15.

Agenesis of the corpus callosum and cerebral anomalies in inborn errors of metabolism.

Prasad AN, Bunzeluk K, Prasad C, Chodirker BN, Magnus KG, Greenberg CR.

Congenit Anom (Kyoto). 2007 Dec;47(4):125-35.

PMID:
17988254
16.

The eye in metabolic diseases: clues to diagnosis.

Poll-The BT, Maillette de Buy Wenniger-Prick CJ.

Eur J Paediatr Neurol. 2011 May;15(3):197-204. doi: 10.1016/j.ejpn.2011.03.005. Epub 2011 Apr 20. Review.

PMID:
21511505
17.

A compendium of inborn errors of metabolism mapped onto the human metabolic network.

Sahoo S, Franzson L, Jonsson JJ, Thiele I.

Mol Biosyst. 2012 Oct;8(10):2545-58. doi: 10.1039/c2mb25075f.

PMID:
22699794
18.

Pediatric neurological syndromes and inborn errors of purine metabolism.

Camici M, Micheli V, Ipata PL, Tozzi MG.

Neurochem Int. 2010 Feb;56(3):367-78. doi: 10.1016/j.neuint.2009.12.003. Epub 2009 Dec 11. Review.

PMID:
20005278
19.

MRI of childhood epilepsy due to inborn errors of metabolism.

Thomas B, Al Dossary N, Widjaja E.

AJR Am J Roentgenol. 2010 May;194(5):W367-74. doi: 10.2214/AJR.09.2948.

PMID:
20410380
20.

Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease.

Zinnanti WJ, Lazovic J, Griffin K, Skvorak KJ, Paul HS, Homanics GE, Bewley MC, Cheng KC, Lanoue KF, Flanagan JM.

Brain. 2009 Apr;132(Pt 4):903-18. doi: 10.1093/brain/awp024. Epub 2009 Mar 17.

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