Results 81 to 90 of about 202 (131)
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JAMA: The Journal of the American Medical Association, 1971
To the Editor.— Two newborns with clinical signs of galactosemia and deficiencies of galactose 1-phosphate uridyl transferase, patients of Drs. David Tuman and Melvin Rosh, respectively, had concomitant septicemias from Escherichia coli (C. A. McNicol, MD, and M. Rosh, MD, personal communications).
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To the Editor.— Two newborns with clinical signs of galactosemia and deficiencies of galactose 1-phosphate uridyl transferase, patients of Drs. David Tuman and Melvin Rosh, respectively, had concomitant septicemias from Escherichia coli (C. A. McNicol, MD, and M. Rosh, MD, personal communications).
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Postgraduate Medicine, 1964
Since 1945, galactosemia has attracted considerable interest, especially when it was recognized that it led rapidly to irreversible mental disease, the development of which can be prevented by nutritional technics. The disease is inherited, but the precise mode of transmission is not known.
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Since 1945, galactosemia has attracted considerable interest, especially when it was recognized that it led rapidly to irreversible mental disease, the development of which can be prevented by nutritional technics. The disease is inherited, but the precise mode of transmission is not known.
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2016
There are three known inherited disorders of galactose metabolism: classic galactosemia (galactose-1-phosphate uridyltransferase deficiency), galactokinase deficiency, and uridine diphosphate galactose 4-epimerase deficiency. Classic galactosemia presents in the newborn period with liver and renal impairment and failure to thrive.
Annet M. Bosch, Elaine Murphy
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There are three known inherited disorders of galactose metabolism: classic galactosemia (galactose-1-phosphate uridyltransferase deficiency), galactokinase deficiency, and uridine diphosphate galactose 4-epimerase deficiency. Classic galactosemia presents in the newborn period with liver and renal impairment and failure to thrive.
Annet M. Bosch, Elaine Murphy
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European Journal of Pediatrics, 1995
Classic galactosemia is an enigmatic disorder that presents the challenge of unraveling the basis of the long-term complications of mental disability, speech defects, ovarian failure and neurologic syndromes which occur despite a galactose-restricted diet.
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Classic galactosemia is an enigmatic disorder that presents the challenge of unraveling the basis of the long-term complications of mental disability, speech defects, ovarian failure and neurologic syndromes which occur despite a galactose-restricted diet.
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Pediatrics, 1952
A case of proved galactosemia in a two month old female infant with necropsy findings has been reported. The liver lesion in this case does not clearly fit into the category of Laennec's cirrhosis or biliary cirrhosis. The presence of the adenomata, rich in glycogen, and the peculiar acinar structures separates it into a distinctive type of lesion.
ALBERT M. EDMONDS +2 more
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A case of proved galactosemia in a two month old female infant with necropsy findings has been reported. The liver lesion in this case does not clearly fit into the category of Laennec's cirrhosis or biliary cirrhosis. The presence of the adenomata, rich in glycogen, and the peculiar acinar structures separates it into a distinctive type of lesion.
ALBERT M. EDMONDS +2 more
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Pediatrics, 1951
Four cases of galactosemia are presented; three occurred in one family. Autopsy findings on one case revealed portal cirrhosis and fatty infiltration of the liver. The etiology of hepatomegaly and the genetic aspects of the disease are discussed.
GEORGE N. DONNELL, STANLEY H. LANN
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Four cases of galactosemia are presented; three occurred in one family. Autopsy findings on one case revealed portal cirrhosis and fatty infiltration of the liver. The etiology of hepatomegaly and the genetic aspects of the disease are discussed.
GEORGE N. DONNELL, STANLEY H. LANN
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Pediatric Clinics of North America, 1960
G N, DONNELL, W R, BERGREN, R S, CLELAND
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G N, DONNELL, W R, BERGREN, R S, CLELAND
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