Results 171 to 180 of about 8,782 (207)

Maple Syrup Urine Disease

2017
exaly   +2 more sources

The Therapy of Maple Syrup Urine Disease

Archives of Pediatrics & Adolescent Medicine, 1967
BOTH THE clinical picture and the metabolic abnormality in maple urine disease pose special problems in its management. The rapid progression of symptoms (from feeding problems and apathy to the onset of central nervous system signs with periods of hypertonicity alternating with hypotonia, loss of Moro's reflex, difficulties with respiration to ...
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Maple Syrup Urine Disease

2005
Abstract Maple syrup urine disease (MSUD) is a heterogeneous genetic disorder resulting from over 50 known mutations that impair the mitochondrial branched-chain a-ketoacid dehydrogenase (BCKD) complex. The components of the BCKD complex include E1, a decarboxylase; E2, an acyl transferase; and E3, a lipomide dehydrogenase (dihydrolipoyl
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Maple Syrup Urine Disease

Nutrition Reviews, 2009
Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Alexander K. C. Leung, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Toshio Nishikimi, Patrick T. S. Ma, Siobhan D. Ma, Alexander K. C. Leung, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, Alexander K. C. Leung, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Alexander K. C. Leung, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander K. C. Leung, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Dieter Metze, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Alexander K. C. Leung, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Thomas Klopstock, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Karin Jurkat-Rott, Frank Lehmann-Horn, Olayinka Raheem, Tiina Suominen, Bjarne Udd   +194 more
openaire   +3 more sources

MAPLE SYRUP URINE DISEASE

Journal of Intellectual Disability Research, 1967
M A, Voyce, J N, Montgomery, L, Crome, J, Bowman, J T, Ireland   +4 more
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Maple Syrup Urine Disease

1995
Maple syrup urine (MSUD) is a heterogeneous disorder. Classification is based on clinical presentation and outcome. Clinically, four phenotypes can be distinguished: classical, intermediate, intermittent and thiamine-responsive forms of MUSD. All forms have an aurosomal recessive mode of inheritance.
Marjo S. van der Knaap, Jacob Valk
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Imaging in Maple Syrup Urine Disease

The Indian Journal of Pediatrics, 2018
Tanay Shah, Sunita Purohit, Mrudang Raval   +2 more
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Ophthalmoplegia in maple syrup urine disease

Journal of American Association for Pediatric Ophthalmology and Strabismus, 2003
Balaji, Gupta, Darrel, Waggoner
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Maple syrup urine disease

2014
Clinical History Image Findings Discussion Find Diagnosis Differential ...
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Ophthalmoplegia in maple syrup urine disease

The Journal of Pediatrics, 1974
D S, Zee, J M, Freeman, N A, Holtzman
openaire   +2 more sources