Results 171 to 180 of about 1,983 (198)
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European Journal of Pediatrics, 1995
Urinary galactose and galactitol excretion in controls is age-dependent with the highest concentrations at a younger age. Untreated patients with classical galactosemia excreted highly elevated amounts of galactitol (8000-69,000 mmol/mol creatinine; controls 3-81) which did not correlate with galactose excretion.
C, Jakobs, S, Schweitzer, B, Dorland
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Urinary galactose and galactitol excretion in controls is age-dependent with the highest concentrations at a younger age. Untreated patients with classical galactosemia excreted highly elevated amounts of galactitol (8000-69,000 mmol/mol creatinine; controls 3-81) which did not correlate with galactose excretion.
C, Jakobs, S, Schweitzer, B, Dorland
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2005
Abstract Galactose metabolism involves three enzymes: galactokinase, galactose-1-phosphate uridyl transferase (GALT) and uridine diphosphate-4-epimerase (Fig. 49–1). Inborn errors of metabolism (IEM) have been described for all three enzymes. The most common inborn error in galactose metabolism is deficiency of the GALT enzyme.
Sandy Van Calcar, Jon Wolff
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Abstract Galactose metabolism involves three enzymes: galactokinase, galactose-1-phosphate uridyl transferase (GALT) and uridine diphosphate-4-epimerase (Fig. 49–1). Inborn errors of metabolism (IEM) have been described for all three enzymes. The most common inborn error in galactose metabolism is deficiency of the GALT enzyme.
Sandy Van Calcar, Jon Wolff
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2017
Abstract This chapter discusses galactosemia, including clinical and biochemical abnormalities, genetic background, factors to consider in nutritional evaluation, dietary management, monitoring, and follow-up care. Dietary management during and after infancy, nutritional supplement needs, and lactose in medications are specifically ...
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Abstract This chapter discusses galactosemia, including clinical and biochemical abnormalities, genetic background, factors to consider in nutritional evaluation, dietary management, monitoring, and follow-up care. Dietary management during and after infancy, nutritional supplement needs, and lactose in medications are specifically ...
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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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Problemy medycyny wieku rozwojowego, 1984
This paper is a review of inborn errors in galactose metabolism with special attention being paid to practical aspects of this problem. The authors presented the history of experimental research on galactose metabolism in human body, patomechanisms of biochemical abnormalities and clinical course of the disease as well as the review of genetic papers ...
Z, Grodzka, E, Zbieg-Sendecka
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This paper is a review of inborn errors in galactose metabolism with special attention being paid to practical aspects of this problem. The authors presented the history of experimental research on galactose metabolism in human body, patomechanisms of biochemical abnormalities and clinical course of the disease as well as the review of genetic papers ...
Z, Grodzka, E, Zbieg-Sendecka
openaire +1 more source