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Items: 1 to 20 of 111

1.

Maple Syrup Urine Disease.

Strauss KA, Puffenberger EG, Morton DH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Jan 30 [updated 2013 May 9].

2.

Dihydrolipoamide Dehydrogenase Deficiency.

Quinonez SC, Thoene JG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2014 Jul 17.

3.

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
4.

Propionic Acidemia.

Shchelochkov OA, Carrillo N, Venditti C.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2012 May 17 [updated 2016 Oct 6].

5.

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
6.

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.

7.

Phenylalanine Hydroxylase Deficiency.

Regier DS, Greene CL.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2000 Jan 10 [updated 2017 Jan 5].

8.

Living related versus deceased donor liver transplantation for maple syrup urine disease.

Feier F, Schwartz IV, Benkert AR, Seda Neto J, Miura I, Chapchap P, da Fonseca EA, Vieira S, Zanotelli ML, Pinto e Vairo F, Camelo JS Jr, Margutti AV, Mazariegos GV, Puffenberger EG, Strauss KA.

Mol Genet Metab. 2016 Mar;117(3):336-43. doi: 10.1016/j.ymgme.2016.01.005. Epub 2016 Jan 12.

PMID:
26786177
9.

Classical maple syrup urine disease and brain development: principles of management and formula design.

Strauss KA, Wardley B, Robinson D, Hendrickson C, Rider NL, Puffenberger EG, Shellmer D, Moser AB, Morton DH.

Mol Genet Metab. 2010 Apr;99(4):333-45. doi: 10.1016/j.ymgme.2009.12.007. Epub 2010 Jan 12. Erratum in: Mol Genet Metab. 2011 Jun;103(2):202. Shelmer, Diana [corrected to Shellmer, Diana].

10.

Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.

Puckett RL, Lorey F, Rinaldo P, Lipson MH, Matern D, Sowa ME, Levine S, Chang R, Wang RY, Abdenur JE.

Mol Genet Metab. 2010 Jun;100(2):136-42. doi: 10.1016/j.ymgme.2009.11.010. Epub 2009 Dec 5.

PMID:
20307994
11.

Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.

Li X, Ding Y, Liu Y, Ma Y, Song J, Wang Q, Li M, Qin Y, Yang Y.

Eur J Med Genet. 2015 Nov;58(11):617-23. doi: 10.1016/j.ejmg.2015.10.002. Epub 2015 Oct 8.

PMID:
26453840
12.

Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features.

Chiong MA, Tan MA, Cordero CP, Fodra EG, Manliguis JS, Lopez CP, Dalmacio LM.

Mol Genet Metab Rep. 2016 Oct 12;9:46-53. eCollection 2016 Dec.

13.

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.

14.

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.

15.

Ornithine Transcarbamylase Deficiency.

Lichter-Konecki U, Caldovic L, Morizono H, Simpson K.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2013 Aug 29 [updated 2016 Apr 14].

17.

Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor.

Al-Shamsi A, Baker A, Dhawan A, Hertecant J.

JIMD Rep. 2016;30:59-62. Epub 2016 Apr 28.

18.

Argininosuccinate Lyase Deficiency.

Nagamani SCS, Erez A, Lee B.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2011 Feb 3 [updated 2012 Feb 2].

19.

Isolated Methylmalonic Acidemia.

Manoli I, Sloan JL, Venditti CP.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2005 Aug 16 [updated 2016 Dec 1].

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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