Results 271 to 280 of about 24,798 (312)

Diagnosis of Inborn Errors of Metabolism

Archives of Medical Research, 2000
Systematic detection of inborn errors of metabolism (IEM) has usually encountered difficulties in developing countries. We present our experience in a high-risk population in Mexico between 1973 and 1998 with particular reference to the last 10 years, during which time infrastructure and support were considerably improved.
A, Velázquez, M, Vela-Amieva, I, Cicerón-Arellano, I, Ibarra-González, M E, Pérez-Andrade, Z, Olivares-Sandoval, G, Jiménez-Sánchez   +6 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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Treatment of Inborn Errors of Metabolism

Pediatrics International, 1980
AbstractThe results of a collaborative study of children treated on newborn mass‐screening program in Japan are described. Forty‐three cases of PKU, in which the dietary treatment was started between 9 to 35 days of life, were followed up, their ages ranging from 6 months to .6 years. DQ or IQ was found to be within normal range in all cases.
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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.
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Inborn Errors of Metabolism

Journal of the American Dietetic Association, 1966
V H, Auerbach, A M, Digeorge
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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 Pediatric Endocrinology and Metabolism, 2020
Wieland, Kiess, Anna, Kirstein, Skadi, Beblo   +2 more
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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 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
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