Results 1 to 10 of about 167,513,957 (289)

Inborn errors of carbohydrate metabolism

Best Practice & Research Clinical Gastroenterology, 2010
Glycogen storage diseases (GSD) and inborn errors of galactose and fructose metabolism are the most common representatives of inborn errors of carbohydrate metabolism. In this review the focus is set on the current knowledge about clinical symptoms, diagnosis and treatment.
Ertan, Mayatepek, Björn, Hoffmann, Thomas, Meissner   +2 more
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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

Inborn errors of GABA metabolism

BioEssays, 1986
AbstractDefects in man in four steps of 4‐aminobutyric acid (GABA) metabolism may interefere with the function of this major inhibitory neurotransmitter. Glutamic acid decarboxylase, 4‐aminobutyric acid aminotransferase, succinic semialdehyde dehydrogenase, and homocarnosinase are closely identified with the brain, but two of these enzymes are ...
K M, Gibson, W L, Nyhan, J, Jaeken
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Epilepsy in inborn errors of metabolism

2013
Epilepsies associated with inborn errors of metabolism (IEM) represent a major challenge. Seizures rarely dominate the clinical presentation, which is more frequently associated with other neurological symptoms, such as hypotonia and/or cognitive disturbances.
Nadia, Bahi-Buisson, Olivier, Dulac
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Inborn Errors of Fructose Metabolism

Annual Review of Nutrition, 1994
METABOLISM OF FRUcrOSE .. . . . . . . . . . . . . . . . . . . . . . . . . . . . • . • . • . . . . . . . . . . 42 Enzymes of Fructost Metabolism .... . .... . ... . .. . ........ . . . . . . . . . . . . . . . . 42 Alternate Pathways of Fructose Metabolism ...... . . . . . . . . . . . . . . . . . . . . . . .. . .
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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
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Inborn errors of metabolism

Journal of Pediatric Endocrinology and Metabolism, 2020
Wieland, Kiess, Anna, Kirstein, Skadi, Beblo   +2 more
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HYPOTHYROIDISM AS AN INBORN ERROR OF METABOLISM

The Journal of Clinical Endocrinology & Metabolism, 1954
CRETINISM in the United Kingdom is commonly sporadic and athyroidic; iodine intake is adequate but functional thyroid tissue is absent. In areas of endemic goiter, cretins are born with goiters; functional thyroid tissue is available initially but there is an insufficient supply of iodine to allow the thyroid gland to keep the fetus or infant in ...
J H, HUTCHISON, E M, McGIRR
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Inborn Errors of Metabolism

Pediatric Clinics of North America, 1967
W H, Crouch, C M, Evanhoe
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Inborn Errors of Metabolism

Journal of the American Dietetic Association, 1966
V H, Auerbach, A M, Digeorge
openaire   +4 more sources