Results 261 to 270 of about 174,613,300 (296)

Inborn errors of fructose metabolism

The American Journal of Clinical Nutrition, 1993
A review is presented of genetic defects affecting fructose metabolism in humans. Presently, six conditions have been recognized: fructose malabsorption, fructokinase deficiency, aldolase A and aldolase B deficiency, fructose-1,6-diphosphatase deficiency and D-glyceric aciduria.
openaire   +2 more sources

Parkinsonism and inborn errors of metabolism

Journal of Inherited Metabolic Disease, 2014
AbstractParkinsonism is a frequent neurological syndrome in adulthood but is very rare in childhood. Early forms of Parkinsonism have many distinctive features as compared to Parkinsonism in adults. In fact, rather than Parkinsonism, the general concept “hypokinetic‐rigid syndrome” (HRS) is more accurate in children.
Garcia-Cazorla A, Duarte ST
openaire   +3 more sources

Inborn Errors of Metabolism

Journal of the American Dietetic Association, 1966
V H, Auerbach, A M, Digeorge
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Testing for Inborn Errors of Metabolism

Continuum, 2018
This article provides an overview of genetic metabolic disorders that can be identified by metabolic tests readily available to neurologists, such as tests for ammonia, plasma amino acids, and urine organic acids. The limitations of these tests are also discussed, as they only screen for a subset of the many inborn errors of metabolism that exist ...
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Inborn errors of metabolism and pregnancy

Journal of Inherited Metabolic Disease, 2000
AbstractAn increasing number of women with inborn errors of metabolism are now reaching child‐bearing age. For certain disorders there are maternal risks associated with pregnancy. These may be related to an increased likelihood of metabolic decompensation (e.g.
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Inborn Errors of Metabolism

Pediatric Clinics of North America, 1967
W H, Crouch, C M, Evanhoe
openaire   +4 more sources

Inborn errors of metabolism

Journal of Pediatric Endocrinology and Metabolism, 2020
Wieland, Kiess, Anna, Kirstein, Skadi, Beblo   +2 more
openaire   +2 more sources

Inborn errors of metabolism and pregnancy

American Journal of Obstetrics & Gynecology MFM
As the diagnosis and treatment of patients with inborn errors of metabolism has improved dramatically over the years, more people with these conditions are surviving into child-bearing years. Given the changes in metabolism throughout pregnancy, this time presents a unique challenge in their care. Overall metabolic shifts in pregnancy go from anabolism
Kristen, Murphey, Iris, Krishna, Hong, Li   +2 more
openaire   +2 more sources

Inborn errors of metabolism

The American Journal of Medicine, 1950
J V, TAGGART, D M, BONNER
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Inborn errors of metabolism

Seminars in Neonatology, 2002
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