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  1. 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...

    A Larsson, T Cursted, U von Döbeln, J Gustafsson, L Hagenfeldt in Pediatric Research (1986)

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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...

    J. Mårtensson M.D., Ph.D., J. Gustafsson in Journal of Inherited Metabolic Disease (1989)

  3. 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...

    A Sunehag, U Ewald, A Larsson, J Gustafsson in Pediatric Research (1993)

  4. 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...

    J Gustafsson, C Carlsson-Skwirut, V R Sara, T Tuvemo, G Annerén in Pediatric Research (1993)

  5. 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...

    O Winqvist, J Gustafsson, F A Karisson, O Kãmpe in Pediatric Research (1993)

  6. 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...

    A Sunehag, J Gustafsson, U Ewald in Pediatric Research (1994)

  7. 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...

    B Diderholm, U Ewald, F Ahlsson, J Gustafsson in Pediatric Research (2004)

  8. 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...

    F Ahlsson, B Diderholm, U Ewald, J Gustafsson in Pediatric Research (2004)

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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...

    M. U. Halldin, A. Forslund, U. von Döbeln in Journal of Inherited Metabolic Disease (2007)

  10. Article

    Erratum to: Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast

    C. Bieneck Haglind, A. Nordenström, S. Ask in Journal of Inherited Metabolic Disease (2015)

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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...

    C. Bieneck Haglind, A. Nordenström, S. Ask in Journal of Inherited Metabolic Disease (2015)