| ID |
Reference |
| G.39 |
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| F.38 |
Barshop, B.A., & Khanna, A., (Dec, 2005). Domino hepatic transplantation in maple syrup urine disease.. The New England journal of medicine, 353, 2410-1. doi:10.1056/NEJM200512013532220 |
| G.23 |
Berry, G.T. (2008, Fall). Medical Management of MSU. MSUD Family Newsletter, 25(2). Retrieved from http://www.msud-support.org/index.php?view=category&id=46%3Avolume-25-2&option=com_content&Itemid=5 |
| F.615 |
Berry, G.T., Heidenreich, R., Kaplan, P., Levine, F., Mazur, A., Palmieri, M.J., Yudkoff, M., & Segal, S., (Jan, 1991). Branched-chain amino acid-free parenteral nutrition in the treatment of acute metabolic decompensation in patients with maple syrup urine disease.. The New England journal of medicine, 324, 175-9. doi:10.1056/NEJM199101173240307 |
| F.124 |
Biggemann, B., Zass, R., & Wendel, U., (1993). Postoperative metabolic decompensation in maple syrup urine disease is completely prevented by insulin.. Journal of inherited metabolic disease, 16(5):912-3. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8295418 |
| G.48 |
Bodamer, O.A. (2010). Overview of Maple Syrup Urine Disease. Retrieved from UpToDate, Inc website www.uptodate.com |
| F.53 |
Bodner-Leidecker, A., Wendel, U., Saudubray, J.M., & Schadewaldt, P., (Dec, 2000). Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation.. Journal of inherited metabolic disease, 23(8):805-18. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11196106 |
| G.44 |
Children's Hospital of Michigan Metabolic Clinic (CHMMC), Division of Genetic and Metabolic Disorders. (2008). Maple Syrup Urine Disease Emergency Care Sick Plan. Detroit, MI: University of Michigan. |
| G.49 |
Chuang, D.T., Wynn, R.M., Shih, V.E. (2008). Maple Syrup Urine Disease (Branched-Chain Ketoaciduria). In Valle et al, The Online Metabolic and Molecular Basis of Inherited Disease (Chapter 87 pp.1-42). The McGraw-Hill Companies, Inc. |
| F.114 |
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| F.83 |
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Duran, M., & Wadman, S.K., (1985). Thiamine-responsive inborn errors of metabolism.. Journal of inherited metabolic disease, 8 Suppl 1:70-5. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/3930844 |
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Duran, M., Tielens, A.G., Wadman, S.K., Stigter, J.C., & Kleijer, W.J., (May, 1978). Effects of thiamine in a patient with a variant form of branched-chian ketoaciduria.. Acta paediatrica Scandinavica, 67(3):367-72. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/654914 |
| F.82 |
Ellerine, N.P., Herring, W.J., Elsas, L.J., McKean, M.C., Klein, P.D., & Danner, D.J., (Jun, 1993). Thiamin-responsive maple syrup urine disease in a patient antigenically missing dihydrolipoamide acyltransferase.. Biochemical medicine and metabolic biology, 49(3):363-74. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8347380 |
| F.101 |
Elsas, L.J., Ellerine, N.P., & Klein, P.D., (May, 1993). Practical methods to estimate whole body leucine oxidation in maple syrup urine disease.. Pediatric research, 33, 445-51. doi:10.1203/00006450-199305000-00005 |
| F.109 |
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| F.29 |
Fuentes-Garcia, D., & Falcon-Arana, L., (Jan, 2009). Perioperative management of a patient with maple syrup urine disease.. British journal of anaesthesia, 102, 144-5. doi:10.1093/bja/aen341 |
| F.100 |
Giacoia, G.P., & Berry, G.T., (Sep, 1993). Acrodermatitis enteropathica-like syndrome secondary to isoleucine deficiency during treatment of maple syrup urine disease.. American journal of diseases of children (1960), 147(9):954-6. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8362810 |
| F.78 |
Grünewald, S., Hinrichs, F., & Wendel, U., (Apr, 1998). Pregnancy in a woman with maple syrup urine disease.. Journal of inherited metabolic disease, 21(2):89-94. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9584259 |
| G.4 |
Hartnett, C. et al. (2003, July, 29). MSUD Infant/ Flax seed oil in MSUD/ Intermittent MSUD/ Leucine and Protein Comparison/ Ordering aminoacids. Message posted to Metabolic Dietician List, <PNO-METAB-L@LISTSERV.CC.EMORY.EDU> |
| G.7 |
Hartnett, C. et al. (2009, January, 28). MSUD low leves/ 6 months MSUD/ ILE deficiency/ MSUD protocol for pregnancy/ Leucine blood spots. Message posted to Metabolic Dietician List, <PNO-METAB-L@LISTSERV.CC.EMORY.EDU> |
| F.611 |
Heldt, K., Schwahn, B., Marquardt, I., Grotzke, M., & Wendel, U., (Apr, 2005). Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification.. Molecular genetics and metabolism, 84, 313-6. doi:10.1016/j.ymgme.2004.11.010 |
| F.80 |
Henriquez, H., el Din, A., Ozand, P.T., Subramanyam, S.B., & al Gain, S.I., (Nov, 1994). Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD).. Brain & development, 16 Suppl:86-93. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7726386 |
| F.612 |
Hilliges, C., Awiszus, D., & Wendel, U., (Feb, 1993). Intellectual performance of children with maple syrup urine disease.. European journal of pediatrics, 152(2):144-7. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8444223 |
| G.35 |
Hillman, R. (1993, Spring/Summer). Protein Malnutrition. MSUD Support Newsletter, 11(1). Retrieved from http://www.msud-support.org/index.php?option=com_content&view=article&id=33:protein-malnutrition&catid=8:volume-11-1&Itemid=5
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| F.45 |
Hmiel, S.P., Martin, R.A., Landt, M., Levy, F.H., & Grange, D.K., (May, 2004). Amino acid clearance during acute metabolic decompensation in maple syrup urine disease treated with continuous venovenous hemodialysis with filtration.. Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies, 5(3):278-81. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/15115568 |
| F.37 |
Hoffmann, B., Helbling, C., Schadewaldt, P., & Wendel, U., (Jan, 2006). Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD.. Pediatric research, 59, 17-20. doi:10.1203/01.pdr.0000190571.60385.34 |
| F.663 |
Huner, G., Baykal, T., Demir, F., & Demirkol, M., (2005). Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.. Journal of inherited metabolic disease, 28, 457-65. doi:10.1007/s10545-005-0457-3 |
| F.63 |
Jan, D., Poggi, F., Laurent, J., Rabier, D., Jouvet, P., Lacaille, F., Beringer, A., Hubert, P., Revillon, Y., & Saudubray, J.M., (Feb, 1994). Liver transplantation: new indications in metabolic disorders?. Transplantation proceedings, 26(1):189-90. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8108935 |
| F.73 |
Jouvet, P., Jugie, M., Rabier, D., Desgrès, J., Hubert, P., Saudubray, J.M., & Man, N.K., (Nov, 2001). Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease.. Intensive care medicine, 27, 1798-806. doi:10.1007/s00134-001-1124-2 |
| F.79 |
Jouvet, P., Poggi, F., Rabier, D., Michel, J.L., Hubert, P., Sposito, M., Saudubray, J.M., & Man, N.K., (Aug, 1997). Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease.. Journal of inherited metabolic disease, 20(4):463-72. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9266382 |
| F.69 |
Kaplan, P., Mazur, A., Field, M., Berlin, J.A., Berry, G.T., Heidenreich, R., Yudkoff, M., & Segal, S., (Jul, 1991). Intellectual outcome in children with maple syrup urine disease.. The Journal of pediatrics, 119(1 Pt 1):46-50. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2066858 |
| F.23 |
Khanna, A., Hart, M., Nyhan, W.L., Hassanein, T., Panyard-Davis, J., & Barshop, B.A., (May, 2006). Domino liver transplantation in maple syrup urine disease.. Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 12, 876-82. doi:10.1002/lt.20744 |
| F.68 |
Koch, S.E., Packman, S., Koch, T.K., & Williams, M.L., (Feb, 1993). Dermatitis in treated maple syrup urine disease.. Journal of the American Academy of Dermatology, 28(2 Pt 2):289-92. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8436640 |
| F.77 |
Koga, Y., Iwanaga, T., Yoshida, I., Yoshino, M., Kaneko, S., & Kato, H., (Apr, 1998). Maple syrup urine disease: nutritional management by intravenous hyperalimentation and uneventful course after surgical repair of dislocation of the hip.. Journal of inherited metabolic disease, 21(2):177-8. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9584272 |
| F.614 |
Korein, J., Sansaricq, C., Kalmijn, M., Honig, J., & Lange, B., (Nov, 1994). Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity.. The International journal of neuroscience, 79(1-2):21-45. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7744549 |
| F.24 |
le Roux, C., Murphy, E., Hallam, P., Lilburn, M., Orlowska, D., & Lee, P., (Feb, 2006). Neuropsychometric outcome predictors for adults with maple syrup urine disease.. Journal of inherited metabolic disease, 29, 201-2. doi:10.1007/s10545-006-0223-1 |
| F.26 |
le Roux, C., Murphy, E., Lilburn, M., & Lee, P.J., (Feb, 2006). The longest-surviving patient with classical maple syrup urine disease.. Journal of inherited metabolic disease, 29, 190-4. doi:10.1007/s10545-006-0204-4 |
| F.20 |
Lee, J.Y., Chiong, M.A., Estrada, S.C., Cutiongco-De la Paz, E.M., Silao, C.L., & Padilla, C.D., (Dec, 2008). Maple syrup urine disease (MSUD)--clinical profile of 47 Filipino patients.. Journal of inherited metabolic disease, 31 Suppl 2, S281-5. doi:10.1007/s10545-008-0859-0 |
| F.616 |
Lee, P.J. (). Pregnancy issues in inherited metabolic disorders.. Journal of inherited metabolic disease, 29, 311-6. doi:10.1007/s10545-005-0252-1 |
| F.72 |
Levin, M.L., Scheimann, A., Lewis, R.A., & Beaudet, A.L., (Jan, 1993). Cerebral edema in maple syrup urine disease.. The Journal of pediatrics, 122(1):167-8. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8419609 |
| F.93 |
Lin, M.C., Chen, C.H., Fu, L.S., Jan, S.L., Shu, S.G., & Chi, C.S., (). Management of acute decompensation of neonatal maple syrup urine disease with continuous arteriovenous haemofiltration: report of one case.. Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi, 43(5):281-4. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12607485 |
| G.50 |
Marriage, B. (2010). Nutrition Management of Patients with Inherited Disorders of Branched- Chain Amino Acid Metabolism. In P.B. Acosta, Nutrition Management of Patients with Inherited Metabolic Disorders (pp. 175-236). Sudbury, MA: Jones and Bartlett Publishers. |
| F.105 |
McMahon, Y., & MacDonnell, R.C., (1990). Clearance of branched chain amino acids by peritoneal dialysis in maple syrup urine disease.. Advances in peritoneal dialysis. Conference on Peritoneal Dialysis, 6:31-4. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/1982835 |
| G.31 |
Morton, D.H., Strauss, K.A. (2005, Summer). Liver transplant as treatment for maple syrup disease: our perspective as pediatricians. MSUD Support Newsletter, 22(2). Retrieved from http://www.msud-support.org/index.php?view=category&id=40%3Avolume-22-2&option=com_content&Itemid=5 |
| F.51 |
Morton, D.H., Strauss, K.A., Robinson, D.L., Puffenberger, E.G., & Kelley, R.I., (Jun, 2002). Diagnosis and treatment of maple syrup disease: a study of 36 patients.. Pediatrics, 109(6):999-1008. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12042535 |
| G.47 |
MSUD The New England Consortium of Metabolic Programs at Children’s Hospital Boston. (2006). Acute Illness Protocol. Boston, MA: Author.
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| G.82 |
New England Consortium. Acute Illness Protocol Organic Acidemias, Maple Syrup Urine Disease (MSUD). Retrieved from http://newenglandconsortium.org/protocols/acute_illness/organic_acid_disorders/maple-syrup-urine-disease.pdf |
| F.67 |
Northrup, H., Sigman, E.S., & Hebert, A.A., (Mar, 1993). Exfoliative erythroderma resulting from inadequate intake of branched-chain amino acids in infants with maple syrup urine disease.. Archives of dermatology, 129(3):384-5. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8447687 |
| F.76 |
Nyhan, W.L., Rice-Kelts, M., Klein, J., & Barshop, B.A., (Jun, 1998). Treatment of the acute crisis in maple syrup urine disease.. Archives of pediatrics & adolescent medicine, 152(6):593-8. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9641714 |
| F.71 |
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| F.81 |
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| F.126 |
Parsons, H.G., Carter, R.J., Unrath, M., & Snyder, F.F., (1990). Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria.. Journal of inherited metabolic disease, 13(2):125-36. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2116544 |
| F.52 |
Puliyanda, D.P., Harmon, W.E., Peterschmitt, M.J., Irons, M., & Somers, M.J., (Apr, 2002). Utility of hemodialysis in maple syrup urine disease.. Pediatric nephrology (Berlin, Germany), 17, 239-42. doi:10.1007/s00467-001-0801-2 |
| F.47 |
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| F.87 |
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| F.85 |
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| F.89 |
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| F.88 |
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| F.46 |
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| F.21 |
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| G.33 |
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| G.26 |
Singh, R.H. (1999, April). Advances in Nutrition Management of Patients with MSUD [PowerPoint slides]. Paper presented at the 7th Abbott Nutrition Advances in Management of Inherited Metabolic Disorders. Washington, District of Columbia. |
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Skladal, D., Grissenauer, G., Konstantopoulou, V., Felber, S., & Sperl, W., (Jul, 2000). Very high plasma leucine concentrations without neurological symptoms in a patient with classical maple syrup urine disease.. Journal of inherited metabolic disease, 23(5):513-4. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10947206 |
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Van Calcar, S. (2003, MONTH). Diet Treatment for Maple Syrup Urine Disease (MSUD) [PowerPoint slides]. Paper presented at the 9th Abbott Nutrition Advances in Management of Inherited Metabolic Disorders.
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Wasserstein, M.P. (2006, Winter). Medical Therapy for Maple Syrup Urine Disease. MSUD Family Newsletter, 23(1). Retrieved fromhttp://www.msud-support.org/index.php?view=article&catid=41%3Avolume-23-1&id=314%3Amedical-therapy-for-maple-syrup-urine-disease&option=com_content&Itemid=5 |
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