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There are 68927 results for: content related to: Movement disorders in adult surviving patients with maple syrup urine disease

  1. MAPLE SYRUP URINE DISEASE

    Acta Paediatrica

    Volume 58, Issue 4, July 1969, Pages: 341–351, J. P. DICKINSON, J. B. HOLTON, G. M. LEWIS, J. M. LITTLEWOOD and A. E. STEEL

    Article first published online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1969.tb04730.x

  2. Management of acute metabolic decompensation in maple syrup urine disease: A multi-center study

    Pediatrics International

    Volume 41, Issue 2, April 1999, Pages: 132–137, Makoto Yoshino, Kikumaro Aoki, Hideki Akeda, Kazuko Hashimoto, Tetsuo Ikeda, Fumio Inoue, Michinori Ito, Masahiko Kawamura, Yoshinori Kohno, Yasutoshi Koga, Yasuhiro Kuroda, Hatae Maesaka, Hiroko Murakami-Soda, Naruji Sugiyama, Yasuyuki Suzuki and Shoji Yano1 And Akira Yoshioka

    Article first published online : 20 JUN 2002, DOI: 10.1046/j.1442-200X.1999.4121044.x

  3. A distinct variant of intermediate maple syrup urine disease

    Clinical Genetics

    Volume 27, Issue 2, February 1985, Pages: 153–159, Maria del Carmen Gonzalez-Rios, David T. Chuang, Rody P. Cox, Kathleen Schmidt, Karen Knopf and Seymour Packman

    Article first published online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1985.tb00203.x

  4. Maple Syrup Urine Disease

    Developmental Medicine & Child Neurology

    Volume 11, Issue 4, August 1969, Pages: 460–470, James F. Schwartz and Ernest T. Kolendrianos

    Article first published online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1969.tb01465.x

  5. Corneal deepithelialization caused by acute deficiency of isoleucine during treatment of a patient with Maple Syrup Urine Disease

    Acta Ophthalmologica Scandinavica

    Volume 74, Issue S219, February 1996, Pages: 48–49, Dr. Kristina Tornqvist and Hans Tornqvist

    Article first published online : 29 MAY 2009, DOI: 10.1111/j.1600-0420.1996.tb00386.x

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    Anaesthetic management in maple syrup urine disease

    Anaesthesia

    Volume 51, Issue 6, June 1996, Pages: 575–578, S. Kahraman, M. Ercan, Ö. Akkuş, Ö. Erçelen, K. Erdem and T. Coşkun

    Article first published online : 22 FEB 2007, DOI: 10.1111/j.1365-2044.1996.tb12568.x

  7. MAPLE SYRUP URINE DISEASE

    Journal of Intellectual Disability Research

    Volume 11, Issue 4, December 1967, Pages: 231–238, M. A. VOYCE, J. N. MONTGOMERY, L. CROME, J. BOWMAN and J. T. IRELAND

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1365-2788.1967.tb00224.x

  8. Maple Syrup Urine Disease Variant Form: Presentation with Psychomotor Retardation and CT Scan Abnormalities

    Acta Paediatrica

    Volume 74, Issue 5, September 1985, Pages: 815–818, A. VERDU, J. LOPEZ-HERCE, I. PASCUAL-CASTROVIEJO, A. MARTINEZ-BERMEJO, M. UGARTE and M. J. GARCIA

    Article first published online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1985.tb10041.x

  9. THE ENZYME DEFECT IN MAPLE SYRUP URINE DISEASE

    Journal of Intellectual Disability Research

    Volume 11, Issue 4, December 1967, Pages: 288–294, J. E. SEEGMILLER and R. G. WESTALL

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1365-2788.1967.tb00233.x

  10. Cardiac Abnormalities in One Case of Maple Syrup Urine Disease

    Echocardiography

    Volume 11, Issue 2, March 1994, Pages: 127–131, JOHN M. ECKERD and JAMES HANSEN

    Article first published online : 23 AUG 2007, DOI: 10.1111/j.1540-8175.1994.tb01057.x

  11. A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 355–362, Alfonso Oyarzabal, Mercedes Martínez-Pardo, Begoña Merinero, Rosa Navarrete, Lourdes R Desviat, Magdalena Ugarte and Pilar Rodríguez-Pombo

    Article first published online : 12 DEC 2012, DOI: 10.1002/humu.22242

  12. BRAIN LIPIDS, PROTEOLIPIDS, AND FREE AMINO ACIDS IN MAPLE SYRUP URINE DISEASE

    Journal of Neurochemistry

    Volume 13, Issue 9, September 1966, Pages: 863–874, Arthur L. Prensky and Hugo W. Moser

    Article first published online : 4 OCT 2006, DOI: 10.1111/j.1471-4159.1966.tb05882.x

  13. Maple syrup urine disease: Metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy

    Annals of Neurology

    Volume 33, Issue 4, April 1993, Pages: 396–401, Dr S. R. Felber, W. Sperl, A. Chemelli, Ch. Murr and U. Wendel

    Article first published online : 8 OCT 2004, DOI: 10.1002/ana.410330412

  14. Treatment Outcome of Maple Syrup Urine Disease

    Pediatrics International

    Volume 30, Issue 4, August 1988, Pages: 417–424, Selma E. Snyderman

    Article first published online : 9 OCT 2007, DOI: 10.1111/j.1442-200X.1988.tb02531.x

  15. Attempted detection of heterozygotes for maple-syrup-urine disease

    Clinical Genetics

    Volume 3, Issue 6, November 1972, Pages: 458–464, Mary T. McKnight and M. W. Spence

    Article first published online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1972.tb01481.x

  16. Molecular heterogeneity for bovine maple syrup urine disease

    Animal Genetics

    Volume 25, Issue 5, October 1994, Pages: 329–332, P. J. Healy and J. A. Dennis

    Article first published online : 24 APR 2009, DOI: 10.1111/j.1365-2052.1994.tb00366.x

  17. Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection

    Pediatrics International

    Volume 50, Issue 3, June 2008, Pages: 312–314, Catherine Lynn T. Silao, 1,2 Carmencita D. Padilla and 1,2 Masafumi Matsuo 3

    Article first published online : 29 MAY 2008, DOI: 10.1111/j.1442-200X.2008.02610.x

  18. Heterozygote to homozygote related living donor liver transplantation in maple syrup urine disease: A case report

    Pediatric Transplantation

    Volume 19, Issue 3, May 2015, Pages: E62–E65, N. Patel, J. Loveland, M. Zuckerman, P. Moshesh, R. Britz and J. Botha

    Article first published online : 10 FEB 2015, DOI: 10.1111/petr.12439

  19. The Evolution of the EEG in Two Patients with Maple Syrup Urine Disease (Branched-chained Ketonuria)

    Developmental Medicine & Child Neurology

    Volume 13, Issue 5, October 1971, Pages: 606–612, Patricia M. Sonksen, D. G. Cottom and Ann Harden

    Article first published online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1971.tb08324.x

  20. A case of maple syrup urine disease misdiagnosed as Tetanus neonatorum on admission

    Pediatrics International

    Volume 36, Issue 3, June 1994, Pages: 284–286, N. KÜLTÜRSAY, N. KÜTÜKÇÜLER, B. BÜYÜKGEBIZ and WJ KLEIJER

    Article first published online : 19 JAN 2011, DOI: 10.1111/j.1442-200X.1994.tb03181.x