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The Therapy of Maple Syrup Urine Disease
Archives of Pediatrics & Adolescent Medicine, 1967BOTH 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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Scoliosis and Maple Syrup Urine Disease
Journal of Pediatric Orthopaedics, 1984The intermediate variant of maple syrup urine disease produced frequent infections and significant mental retardation in a young female patient recently treated for scoliosis. There were no problems with infection, wound healing, or fusion with a regimen consisting of a low protein diet, perioperative antibiotics, good hydration, and early ...
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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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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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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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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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Imaging in Maple Syrup Urine Disease
The Indian Journal of Pediatrics, 2018Tanay Shah +2 more
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Ophthalmoplegia in maple syrup urine disease
Journal of American Association for Pediatric Ophthalmology and Strabismus, 2003Balaji, Gupta, Darrel, Waggoner
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Ophthalmoplegia in maple syrup urine disease
The Journal of Pediatrics, 1974D S, Zee, J M, Freeman, N A, Holtzman
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