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Items: 18

1.

Maple syrup urine disease: mechanisms and management.

Blackburn PR, Gass JM, Vairo FPE, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS.

Appl Clin Genet. 2017 Sep 6;10:57-66. doi: 10.2147/TACG.S125962. eCollection 2017. Review.

PMID:
28919799
2.

[MR spectroscopy in metabolic disorders of the brain].

Yilmaz U.

Radiologe. 2017 Jun;57(6):438-442. doi: 10.1007/s00117-017-0256-5. Review. German.

PMID:
28508091
3.

A Review of Selected Genes with Known Effects on Performance and Health of Cattle.

Casas E, Kehrli ME Jr.

Front Vet Sci. 2016 Dec 15;3:113. doi: 10.3389/fvets.2016.00113. eCollection 2016. Review.

4.

"Classical organic acidurias": diagnosis and pathogenesis.

Villani GR, Gallo G, Scolamiero E, Salvatore F, Ruoppolo M.

Clin Exp Med. 2017 Aug;17(3):305-323. doi: 10.1007/s10238-016-0435-0. Epub 2016 Sep 9. Review.

PMID:
27613073
5.

Newborn Screening: What Does the Emergency Physician Need to Know?

Lavin LR, Higby N, Abramo T.

Pediatr Emerg Care. 2015 Sep;31(9):661-7; quiz 667-9. doi: 10.1097/PEC.0000000000000549. Review.

PMID:
26335232
6.

Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review.

Zeltner NA, Huemer M, Baumgartner MR, Landolt MA.

Orphanet J Rare Dis. 2014 Oct 25;9:159. doi: 10.1186/s13023-014-0159-8. Review.

7.

Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.

Moorthie S, Cameron L, Sagoo GS, Bonham JR, Burton H.

J Inherit Metab Dis. 2014 Nov;37(6):889-98. doi: 10.1007/s10545-014-9729-0. Epub 2014 Jul 15. Review.

PMID:
25022222
8.

Defects of thiamine transport and metabolism.

Brown G.

J Inherit Metab Dis. 2014 Jul;37(4):577-85. doi: 10.1007/s10545-014-9712-9. Epub 2014 May 1. Review.

PMID:
24789339
9.

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
10.

Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.

Burrage LC, Nagamani SC, Campeau PM, Lee BH.

Hum Mol Genet. 2014 Sep 15;23(R1):R1-8. doi: 10.1093/hmg/ddu123. Epub 2014 Mar 20. Review.

11.

Neurological damage in MSUD: the role of oxidative stress.

Sitta A, Ribas GS, Mescka CP, Barschak AG, Wajner M, Vargas CR.

Cell Mol Neurobiol. 2014 Mar;34(2):157-65. doi: 10.1007/s10571-013-0002-0. Epub 2013 Nov 13. Review.

PMID:
24220995
12.

L-carnitine supplementation as a potential antioxidant therapy for inherited neurometabolic disorders.

Ribas GS, Vargas CR, Wajner M.

Gene. 2014 Jan 10;533(2):469-76. doi: 10.1016/j.gene.2013.10.017. Epub 2013 Oct 19. Review.

PMID:
24148561
13.

The neuropsychiatry of inborn errors of metabolism.

Walterfang M, Bonnot O, Mocellin R, Velakoulis D.

J Inherit Metab Dis. 2013 Jul;36(4):687-702. doi: 10.1007/s10545-013-9618-y. Epub 2013 May 23. Review.

PMID:
23700255
14.

Maple Syrup Urine Disease.

Strauss KA, Puffenberger EG, Morton DH.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2006 Jan 30 [updated 2013 May 9].

15.

Defects in amino acid catabolism and the urea cycle.

Hoffmann GF, Kölker S.

Handb Clin Neurol. 2013;113:1755-73. doi: 10.1016/B978-0-444-59565-2.00046-0. Review.

PMID:
23622399
16.

Ataxia.

Winchester S, Singh PK, Mikati MA.

Handb Clin Neurol. 2013;112:1213-7. doi: 10.1016/B978-0-444-52910-7.00043-X. Review.

PMID:
23622331
17.

Domino liver transplantation in maple syrup urine disease: a case report and review of the literature.

Badell IR, Hanish SI, Hughes CB, Hewitt WR, Chung RT, Spivey JR, Knechtle SJ.

Transplant Proc. 2013 Mar;45(2):806-9. doi: 10.1016/j.transproceed.2012.04.031. Epub 2012 Sep 6. Review.

PMID:
23267808
18.

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.

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