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Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1970 openaire +1 more source
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American Journal of Diseases of Children, 1963
More than 20 instances of maple syrup urine disease (MSUD) have been described since 1954. Most were infants, who manifested in the first month of life a maple syrup odor in their urine and a clinical pattern of fits, episodic rigidity, lethargy, and poor suck. When measured, their blood and urine levels were found to be elevated for the branched-chain
N C, WOODY, C D, HANCOCK
+6 more sources
More than 20 instances of maple syrup urine disease (MSUD) have been described since 1954. Most were infants, who manifested in the first month of life a maple syrup odor in their urine and a clinical pattern of fits, episodic rigidity, lethargy, and poor suck. When measured, their blood and urine levels were found to be elevated for the branched-chain
N C, WOODY, C D, HANCOCK
+6 more sources
The treatment of maple syrup urine disease
The Journal of Pediatrics, 1969Summary The early management of 3 infants with maple syrup urine disease is described with particular reference to variations in daily requirements for branched-chain amino acids. The use of a new dry base mix consisting of a dextrimaltose-corn oil-mineral mix, an iron-vitamin mix, and an amino acid mix as a formula base has facilitated earlier home ...
S I, Goodman +3 more
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Hypoglycemia in Maple Syrup Urine Disease
Archives of Pediatrics & Adolescent Medicine, 1967HYPOGLYCEMIA associated with maple syrup urine disease has been observed by MacKenzie and Woolf, 1 Silberman, et al, 2 Lonsdale and Barber, 3 and Menkes (oral communication, 1966). Several investigators have speculated as to whether the mechanism resembles that of leucine sensitive hypoglycemia as originally described by Cochrane.
G N, Donnell +3 more
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Inflammation in maple syrup urine disease
Clinica Chimica ActaMaple syrup urine disease (MSUD), also called leucinosis, is a rare inborn error of metabolism characterized by the deficiency of an enzyme complex: branched-chain alpha-keto acid dehydrogenase (BCKAD). This complex is located in the mitochondria and is responsible for metabolizing the three essential branched-chain amino acids (BCAA): isoleucine ...
Ana Kalise, Böttcher +6 more
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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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