Results 171 to 180 of about 1,934 (207)
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Acta Paediatrica, 1980
Abstract. Pettersson, R., Dahlqvist, A., Hattevig, G. and Kjellman, B. (Department of Paediatrics Central Hospital, Skövde and Department of Nutrition, University of Lund, Sweden). Borderline galactosemia. Acta Paediatr Scand, 69:735, 1980.—A family with combined heterozygosity for “classical” galactosemia (deficiency of uridyl‐transferase) and for ...
R, Pettersson +3 more
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Abstract. Pettersson, R., Dahlqvist, A., Hattevig, G. and Kjellman, B. (Department of Paediatrics Central Hospital, Skövde and Department of Nutrition, University of Lund, Sweden). Borderline galactosemia. Acta Paediatr Scand, 69:735, 1980.—A family with combined heterozygosity for “classical” galactosemia (deficiency of uridyl‐transferase) and for ...
R, Pettersson +3 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.
Stanley H. Lann, George N. Donnell
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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.
Stanley H. Lann, George N. Donnell
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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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Bone metabolism in galactosemia
Bone, 2004Classical galactosemia is an autosomal recessively inherited disorder of galactose metabolism. Treatment consists of life-long dietary restriction of galactose. Despite treatment, long-term complications occur such as a decreased bone mineral density (BMD).
Cees Vermeer +6 more
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Alternate Metabolic Pathway in Galactosemia
American Journal of Diseases of Children, 1966GALACTOSEMIA is a rare, inherited metabolic disorder which, when unrecognized, may lead to death in early infancy or survival with varying degrees of mental retardation, cirrhosis of the liver, lenticular opacities, and growth failure. Isselbacher, Kalckar, and their associates have identified the defect in galactosemia as a deficiency of the enzyme ...
William W. Wells, Thomas J. Egan
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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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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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Prenatal diagnosis of galactosemia
Clinica Chimica Acta, 1977Prenatal diagnosis of disorders of galactose metabolism was done in one instance in a family with a known galactokinase deficiency and in six cases in five families at risk for galactosemia. The galactokinase activity in cultured amniotic cells was found to be normal, and the diagnosis was confirmed postnatally.
William R. Bergrena +4 more
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Neurologic complications in galactosemia
Pediatric Neurology, 1992Two siblings, a 27-year-old man and his 24-year-old sister were diagnosed with classic transferase deficiency galactosemia at birth and were treated with strict lactose restriction. Despite well-documented dietary management, both siblings are mentally retarded and manifest a progressive neurologic condition characterized by hypotonia, hyperreflexia ...
Seymour Packman +4 more
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Pseudotumor cerebri in galactosemia
The Journal of Pediatrics, 1970Three infants with signs of increased intracranial pressure in association with galactosemia are reported. The presence of a bulging fontanelle initially suggested other diagnostic possibilities, and led to the loss of valuable time before the correct diagnosis was made.
Peter R. Huttenlocher +2 more
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