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Items: 1 to 20 of 63

1.

Cerebral edema in maple syrup urine disease despite newborn screening diagnosis and early initiation of treatment.

Myers KA, Reeves M, Wei XC, Khan A.

JIMD Rep. 2012;3:103-6. doi: 10.1007/8904_2011_69. Epub 2011 Sep 22.

2.

Maple syrup urine disease: diffusion-weighted and diffusion-tensor magnetic resonance imaging findings.

Parmar H, Sitoh YY, Ho L.

J Comput Assist Tomogr. 2004 Jan-Feb;28(1):93-7.

PMID:
14716239
3.

Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity.

Korein J, Sansaricq C, Kalmijn M, Honig J, Lange B.

Int J Neurosci. 1994 Nov;79(1-2):21-45.

PMID:
7744549
4.

Diagnosis and treatment of maple syrup disease: a study of 36 patients.

Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI.

Pediatrics. 2002 Jun;109(6):999-1008.

PMID:
12042535
5.

Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification.

Heldt K, Schwahn B, Marquardt I, Grotzke M, Wendel U.

Mol Genet Metab. 2005 Apr;84(4):313-6. Epub 2005 Jan 24.

PMID:
15781191
6.

[Maple syrup urine disease of neonates: report of two cases and review of literature].

Chen Z, Luo F, Wu XJ, Shi LP.

Zhonghua Er Ke Za Zhi. 2010 Sep;48(9):680-4. Review. Chinese.

PMID:
21092528
7.

Maple syrup urine disease: diffusion-weighted MRI findings during acute metabolic encephalopathic crisis.

Kilicarslan R, Alkan A, Demirkol D, Toprak H, Sharifov R.

Jpn J Radiol. 2012 Jul;30(6):522-5. doi: 10.1007/s11604-012-0079-2. Epub 2012 Apr 3.

PMID:
22476847
8.

Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formula.

Fattal-Valevski A, Kesler A, Sela BA, Nitzan-Kaluski D, Rotstein M, Mesterman R, Toledano-Alhadef H, Stolovitch C, Hoffmann C, Globus O, Eshel G.

Pediatrics. 2005 Feb;115(2):e233-8.

PMID:
15687431
9.

[Acute encephalopathy due to late-onset maple syrup urine disease in a school boy].

Qu SQ, Yang LC, Luan Z, Du K, Yang H.

Zhongguo Dang Dai Er Ke Za Zhi. 2012 Mar;14(3):161-4. Chinese.

10.

Total branched-chain amino acids requirement in patients with maple syrup urine disease by use of indicator amino acid oxidation with L-[1-13C]phenylalanine.

Riazi R, Rafii M, Clarke JT, Wykes LJ, Ball RO, Pencharz PB.

Am J Physiol Endocrinol Metab. 2004 Jul;287(1):E142-9. Epub 2004 Feb 17.

PMID:
14970005
11.

Diffusion-weighted MRI of maple syrup urine disease encephalopathy.

Cavalleri F, Berardi A, Burlina AB, Ferrari F, Mavilla L.

Neuroradiology. 2002 Jun;44(6):499-502. Epub 2002 Apr 24.

PMID:
12070724
12.

Maple syrup urine disease (MSUD)--clinical profile of 47 Filipino patients.

Lee JY, Chiong MA, Estrada SC, Cutiongco-De la Paz EM, Silao CL, Padilla CD.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S281-5. doi: 10.1007/s10545-008-0859-0. Epub 2008 Nov 10.

PMID:
18989748
13.

[Maple syrup urine disease and cystathioninemia].

Simma B, Sperl W, Berger H.

Padiatr Padol. 1989;24(1):69-75. German.

PMID:
2497426
14.

Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).

Oglesbee D, Sanders KA, Lacey JM, Magera MJ, Casetta B, Strauss KA, Tortorelli S, Rinaldo P, Matern D.

Clin Chem. 2008 Mar;54(3):542-9. doi: 10.1373/clinchem.2007.098434. Epub 2008 Jan 4.

15.

A chemically-induced acute model of maple syrup urine disease in rats for neurochemical studies.

Bridi R, Fontella FU, Pulrolnik V, Braun CA, Zorzi GK, Coelho D, Wajner M, Vargas CR, Dutra-Filho CS.

J Neurosci Methods. 2006 Sep 15;155(2):224-30.

PMID:
16530844
16.

Antioxidant administration prevents memory impairment in an animal model of maple syrup urine disease.

Scaini G, Teodorak BP, Jeremias IC, Morais MO, Mina F, Dominguini D, Pescador B, Comim CM, Schuck PF, Ferreira GC, Quevedo J, Streck EL.

Behav Brain Res. 2012 May 16;231(1):92-6. doi: 10.1016/j.bbr.2012.03.004. Epub 2012 Mar 13.

PMID:
22433584
17.

Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease.

Schönberger S, Schweiger B, Schwahn B, Schwarz M, Wendel U.

Mol Genet Metab. 2004 May;82(1):69-75.

PMID:
15110325
18.

Domino liver transplantation in maple syrup urine disease.

Khanna A, Hart M, Nyhan WL, Hassanein T, Panyard-Davis J, Barshop BA.

Liver Transpl. 2006 May;12(5):876-82.

19.
20.

Utility of hemodialysis in maple syrup urine disease.

Puliyanda DP, Harmon WE, Peterschmitt MJ, Irons M, Somers MJ.

Pediatr Nephrol. 2002 Apr;17(4):239-42. Review.

PMID:
11956873

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