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Article
NEONATAL SCREENING FOR CONGENITAL ADRENAL HYPERPLASIA (CAH) USING 17-HYDROXYPROGESTERONE (17-OHP) ASSAYS OF DRIED BLOOD SPOTS
Dried blood on filter paper collected on the 5th day of life was used to screen infants for CAH. A radioimmunoassay for 17-OHP without extraction with organic solvents was developed. The cut-off level was init...
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Article
A therapeutic trial withN-acetylcysteine in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria)
In a therapeutic trial, the effect of short-term low-dosageN-acetylcysteine supplementation on glutathione metabolism was investigated in two patients with hereditary glutathione deficiency (5-oxoprolinuria). Cli...
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Article
Glucose Production Rate in Extremely Immature Neonates (<28 Weeks) Studied by Use of Deuterated Glucose
ABSTRACT: Neonatal hypoglycemia is a frequent complication in immature infants. This may be due to small substrate stores, a high brain:body weight ratio, and immature enzyme systems. The purpose of the presen...
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Article
GROWTH HORMONE THERAPY OF CHILDREN WITH DOWN SYNDROME RESULTS IN NORMALIZED GROWTH VELOCITY
Growth velocity is markedly reduced in children with Down syndrome (DS) between 6 months and 3 years of age, but is almost normal after 3 years of age. Thus, the growth retardation becomes pronounced during th...
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Article
The adrenal autoantigen in APSI is the side-chain cleavage enzyme
Autoimmune potyendocrine syndrome type I (Blizzard's syndrome) is an autosomal recessively inherited disease associated with multiple endocrine and non-endocrine manifestations such as autoimmune hypoparathvro...
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Article
Very Immature Infants (≤ 30 Wk) Respond to Glucose Infusion with Incomplete Suppression of Glucose Production
ABSTRACT: Small substrate stores and immature enzyme systems make preterm infants prone to develop hypoglycemia. Hy-perglycemia may also occur, particularly when these infants are given i.v. glucose. To evalua...
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Article
73 Metabolic Adaptation in Infants Born Small for Gestational Age
Background: After birth the newborn infant must produce its own glucose until breastfeeding is established. Infants born small for gestational age (SGA) are at risk for neonatal hypoglycemia and development of me...
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Article
3 Increased Lipolysis in Large for Gestational Age Infants
Background: During late gestation the fetus accumulates fat and glycogen for the immediate postnatal period. Newborn infants of diabetic mothers as well as other infants with hyperinsulinemia have particularly la...
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Article
Increased lipolysis in LCHAD deficiency
An increasing number of fatty acid oxidation defects are being detected owing to diagnostic improvements and a greater awareness among clinicians. The metabolic block leads to energy disruption, fatty infiltra...
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Article
Erratum to: Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast
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Article
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast
Children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) have a defect in the degradation of long-chain fatty acids and are at risk of hypoketotic hypoglycemia and insufficient energy produc...