Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden.

PubWeight™: 0.96‹?› | Rank: Top 15%

🔗 View Article (PMID 9521977)

Published in Pediatrics on April 01, 1998

Authors

A Thil'en1, A Nordenström, L Hagenfeldt, U von Döbeln, C Guthenberg, A Larsson

Author Affiliations

1: Department of Pediatrics, Ryhov Hospital, Jonkoping, Sweden.

Articles citing this

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab (2010) 3.80

Pediatric reference intervals for aldosterone, 17alpha-hydroxyprogesterone, dehydroepiandrosterone, testosterone and 25-hydroxy vitamin D3 using tandem mass spectrometry. Clin Biochem (2009) 1.47

Neonatal screening for congenital adrenal hyperplasia. Nat Rev Endocrinol (2009) 1.40

The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. Clin Biochem Rev (2009) 1.08

Results from 28 years of newborn screening for congenital adrenal hyperplasia in sapporo. Clin Pediatr Endocrinol (2014) 0.91

Congenital adrenal hyperplasia: an update in children. Curr Opin Endocrinol Diabetes Obes (2011) 0.88

High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency. PLoS One (2008) 0.83

False negative 17-hydroxyprogesterone screening in children with classical congenital adrenal hyperplasia. Eur J Pediatr (2007) 0.82

Newborn screening for congenital adrenal hyperplasia in New York State. Mol Genet Metab Rep (2016) 0.78

Adrenal steroidogenesis and congenital adrenal hyperplasia. Endocrinol Metab Clin North Am (2015) 0.76

Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Ann Pediatr Endocrinol Metab (2016) 0.76

Hospital Admission Patterns in Children with CAH: Admission Rates and Adrenal Crises Decline with Age. Int J Endocrinol (2016) 0.75

Congenital Adrenal Hyperplasia. J Pediatr Adolesc Gynecol (2017) 0.75

Clitoral size in term newborns in Kumasi, Ghana. Int J Pediatr Endocrinol (2017) 0.75

Articles by these authors

Identification of three classes of cytosolic glutathione transferase common to several mammalian species: correlation between structural data and enzymatic properties. Proc Natl Acad Sci U S A (1985) 6.20

Glutathione transferase (human placenta). Methods Enzymol (1981) 3.59

Inhibition of influenza virus ribonucleic acid polymerase by ribavirin triphosphate. Antimicrob Agents Chemother (1977) 2.71

Substrate turnover during prolonged exercise in man. Splanchnic and leg metabolism of glucose, free fatty acids, and amino acids. J Clin Invest (1974) 2.40

Effect of protein ingestion on splanchnic and leg metabolism in normal man and in patients with diabetes mellitus. J Clin Invest (1976) 2.27

Trisodium phosphonoformate, a new antiviral compound. Science (1978) 2.13

Random albumin/creatinine ratio for quantification of proteinuria in manifest pre-eclampsia. BJOG (2006) 2.13

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. J Pediatr (1997) 2.12

Molecular and catalytic properties of glutathione transferase mu from human liver: an enzyme efficiently conjugating epoxides. Biochemistry (1983) 2.08

Congenital hypothyroidism in Sweden. Incidence and age at diagnosis. Acta Paediatr Scand (1978) 1.94

Microsomal glutathione S-transferase. Purification, initial characterization and demonstration that it is not identical to the cytosolic glutathione S-transferases A, B and C. Eur J Biochem (1982) 1.85

Hypocalcemia and parathyroid hormone secretion in critically ill patients. Crit Care Med (2000) 1.73

Mode of action, toxicity, pharmacokinetics, and efficacy of some new antiherpesvirus guanosine analogs related to buciclovir. Antimicrob Agents Chemother (1986) 1.71

Enzymatic synthesis of deoxyribonucleotides. X. Reduction of purine ribonucleotides; allosteric behavior and substrate specificity of the enzyme system from Escherichia coli B. J Biol Chem (1966) 1.64

Significance of ribonucleotide reduction in the biosynthesis of deoxyribonucleotides in Escherichia coli. Eur J Biochem (1967) 1.63

Uptake of individual free fatty acids by skeletal muscle and liver in man. J Clin Invest (1972) 1.63

Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia. Am J Med Genet (1998) 1.61

Rat glutathione transferase 8-8, an enzyme efficiently detoxifying 4-hydroxyalk-2-enals. FEBS Lett (1986) 1.57

Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab (1999) 1.56

Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria). Proc Natl Acad Sci U S A (1974) 1.51

Arthritis in DBA/1 mice induced with passively transferred type II collagen immune serum. Immunohistopathology and serum levels of anti-type II collagen auto-antibodies. Scand J Immunol (1990) 1.51

The odontogenic keratocyst: a benign cystic tumor? J Oral Maxillofac Surg (1984) 1.51

Purification of major basic glutathione transferase isoenzymes from rat liver by use of affinity chromatography and fast protein liquid chromatofocusing. Anal Biochem (1985) 1.49

Primary Sjögren's syndrome in patients with multiple sclerosis. Neurology (1992) 1.49

Active smoking and a history of smoking are associated with enhanced prostaglandin F(2alpha), interleukin-6 and F2-isoprostane formation in elderly men. Atherosclerosis (2005) 1.49

A gas chromatographic method for the determination of individual free fatty acids in plasma. Clin Chim Acta (1966) 1.47

Identification of the stable free radical tyrosine residue in ribonucleotide reductase. EMBO J (1986) 1.47

Automated pre-ejection period variation indexed to tidal volume predicts fluid responsiveness after cardiac surgery. Acta Anaesthesiol Scand (2009) 1.46

Splanchnic and leg exchange of glucose, amino acids, and free fatty acids during exercise in diabetes mellitus. J Clin Invest (1975) 1.46

Purification and characterization of two glutathione S-aryltransferase activities from rat liver. Biochem J (1975) 1.43

The European Union Directive on Clinical Research: present status of implementation in EU member states' legislations with regard to the incompetent patient. Intensive Care Med (2005) 1.42

Uncompensated blood loss is not tolerated during acute normovolemic hemodilution in anesthetized pigs. Anesth Analg (1998) 1.42

Retrospective diagnostics of congenital cytomegalovirus infection performed by polymerase chain reaction in blood stored on filter paper. Scand J Infect Dis (1997) 1.39

Isolation and characterization of calf liver thioredoxin. J Biol Chem (1974) 1.39

Retrospective diagnosis of 3-hydroxydicarboxylic aciduria by analysis of filter paper blood samples. J Inherit Metab Dis (1990) 1.39

Altered brain white matter integrity in healthy carriers of the APOE epsilon4 allele: a risk for AD? Neurology (2006) 1.38

Gastrointestinal transit of amoxicillin modified-release tablets and a placebo tablet including pharmacokinetic assessments of amoxicillin. Scand J Gastroenterol (1996) 1.38

Regional variations of iodine nutrition and thyroid function during the neonatal period in Europe. Biol Neonate (1986) 1.37

Evidence for two different classes of redox-active cysteines in ribonucleotide reductase of Escherichia coli. J Biol Chem (1989) 1.36

Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. Hum Mol Genet (1997) 1.36

Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations. Mov Disord (1994) 1.36

Antiherpetic activity and mechanism of action of 9-(4-hydroxybutyl)guanine. Antiviral Res (1983) 1.35

Pyrophosphate analogues as inhibitors of herpes simplex virus type 1 DNA polymerase. Biochim Biophys Acta (1980) 1.34

Inhibition of gamma-glutamylcysteine synthetase by cystamine: an approach to a therapy of 5-oxoprolinuria (pyroglutamic aciduria). Biochem Biophys Res Commun (1977) 1.34

Antibody dependent cytolytic effector lymphocytes (K cells) in human blood. J Reticuloendothel Soc (1975) 1.33

The timing of glucocorticoid administration in rheumatoid arthritis. Ann Rheum Dis (1997) 1.33

Purification of a new glutathione S-transferase (transferase mu) from human liver having high activity with benzo(alpha)pyrene-4,5-oxide. Biochem Biophys Res Commun (1981) 1.28

Human forearm muscle metabolism during exercise. II. Uptake, release and oxidation of individual FFA and glycerol. Scand J Clin Lab Invest (1968) 1.28

Enzymatic synthesis of deoxyribonucleotides. IX. Allosteric effects in the reduction of pyrimidine ribonucleotides by the ribonucleoside diphosphate reductase system of Escherichia coli. J Biol Chem (1966) 1.27

Inhibitors for distinction of three types of human glutathione transferase. FEBS Lett (1985) 1.26

Purification of glutathione-S-transferase from human placenta. Acta Chem Scand B (1979) 1.25

Nucleic acid hybridization, a method to determine effects of antiviral compounds on herpes simplex virus type 1 DNA synthesis. Antiviral Res (1984) 1.25

Altered deactivation in individuals with genetic risk for Alzheimer's disease. Neuropsychologia (2008) 1.25

Inhibiting effect of (RS)-9-[4-hydroxy-2-(hydroxymethyl)butyl]guanine on varicella-zoster virus replication in cell culture. Antimicrob Agents Chemother (1987) 1.25

Analysis of oligonucleotide probe affinities using surface plasmon resonance: a means for mutational scanning. Anal Biochem (1997) 1.24

Glycerol production in subcutaneous adipose tissue in lean and obese humans. J Clin Invest (1992) 1.24

Incidence of congenital hypothyroidism: retrospective study of neonatal laboratory screening versus clinical symptoms as indicators leading to diagnosis. Br Med J (Clin Res Ed) (1984) 1.23

Purification of glutathione S-transferases from rat lung by affinity chromatography. Evidence for an enzyme form absent in rat liver. Biochem Biophys Res Commun (1979) 1.23

Substrate utilization by the inactive leg during one-leg or arm exercise. J Appl Physiol (1975) 1.23

Glutathione transferases from human liver. Methods Enzymol (1985) 1.23

Evaluation of Gentian cystatin C reagent on Abbott Ci8200 and calculation of glomerular filtration rate expressed in mL/min/1.73 m(2) from the cystatin C values in mg/L. Scand J Clin Lab Invest (2007) 1.21

Critical determinants of antiherpes efficacy of buciclovir and related acyclic guanosine analogs. Antiviral Res (1987) 1.21

T and B cell responses of Plasmodium falciparum malaria-immune individuals to synthetic peptides corresponding to sequences in different regions of the P. falciparum antigen Pf155/RESA. J Immunol (1989) 1.21

Design and evaluation of pilicides: potential novel antibacterial agents directed against uropathogenic Escherichia coli. Chembiochem (2001) 1.20

Differences in stereoselectivity and catalytic efficiency of three human glutathione transferases in the conjugation of glutathione with 7 beta,8 alpha-dihydroxy-9 alpha,10 alpha-oxy-7,8,9,10-tetrahydrobenzo(a)pyrene. Cancer Res (1986) 1.20

Study of Fab and F(ab') 2 from rabbit IgG for capacity to induce lymphocyte-mediated target cell destruction in vitro. Int Arch Allergy Appl Immunol (1972) 1.20

Metabolism and mode of action of (R)-9-(3,4-dihydroxybutyl)guanine in herpes simplex virus-infected vero cells. J Biol Chem (1986) 1.20

Pyroglutamic aciduria (5-oxoprolinuria), an inborn error in glutathione metabolism. Pediatr Res (1974) 1.19

Glutathione transferase from rat testis. Methods Enzymol (1985) 1.19

Routine oxytocin in the third stage of labour: a placebo controlled randomised trial. Br J Obstet Gynaecol (1997) 1.19

9-(3,4-dihydroxybutyl)guanine, a new inhibitor of herpesvirus multiplication. Antimicrob Agents Chemother (1983) 1.18

Glutathione transferases in rat testis. Acta Chem Scand B (1983) 1.18

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. J Med Genet (2008) 1.16

Lower frequency of focal lip sialadenitis (focus score) in smoking patients. Can tobacco diminish the salivary gland involvement as judged by histological examination and anti-SSA/Ro and anti-SSB/La antibodies in Sjögren's syndrome? Ann Rheum Dis (2000) 1.16

Detection of antigen-antibody interactions by surface plasmon resonance. Application to epitope mapping. J Mol Recognit (1991) 1.16

Mental development in congenital hypothyroidism after neonatal screening. Arch Dis Child (1987) 1.15

The trans-stilbene oxide-active glutathione transferase in human mononuclear leucocytes is identical with the hepatic glutathione transferase mu. Biochem J (1987) 1.14

Glutathione S-transferase (transferase pi) from human placenta is identical or closely related to glutathione S-transferase (transferase rho) from erythrocytes. Biochim Biophys Acta (1981) 1.14

Influence of somatostatin on splanchnic glucose metabolism in postabsorptive and 60-hour fasted humans. J Clin Invest (1977) 1.13

Isoenzymes of glutathione transferase in rat kidney cytosol. Biochem J (1985) 1.13

Immunohistochemical localisation of tissue plasminogen activator and urokinase in the vessel wall. J Clin Pathol (1985) 1.13

Corticosteroid treatment of experimental arthritis retards cartilage destruction as determined by histology and serum COMP. Rheumatology (Oxford) (2004) 1.13

Turnover and splanchnic metabolism of free fatty acids and ketones in insulin-dependent diabetics at rest and in response to exercise. J Clin Invest (1984) 1.12

Splenic transplantation in a case of Gaucher's disease. Lancet (1971) 1.12

Cytotoxicity of human lymphocytes induced by rabbit antibodies to chicken erythrocytes. Inhibition by normal IgG and by human myeloma proteins of different IgG subclasses. Immunology (1973) 1.11

Genetic regulation of human anti-malarial antibodies in twins. Proc Natl Acad Sci U S A (1992) 1.11

Reversible inhibition of cellular metabolism by ribavirin. Antimicrob Agents Chemother (1978) 1.11

Ribonucleotide reductase rom regenerating rat liver. Eur J Biochem (1969) 1.10

Glutathione S-transferases in earthworms (Lumbricidae). Biochem J (1979) 1.09

Kinetic analysis in cell culture of the reversal of antiherpes activity of nucleoside analogs by thymidine. Antimicrob Agents Chemother (1983) 1.09

Physical exercise and fuel homeostasis in diabetes mellitus. Diabetologia (1978) 1.09

Sequential studies of serum blocking activity in rats bearing chemically induced primary bowel tumors. J Natl Cancer Inst (1975) 1.08

Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis (1995) 1.08

Metabolic effects of starvation in the eel, Anguilla anguilla L. Comp Biochem Physiol A Comp Physiol (1973) 1.07

In vitro and in vivo erosion of two different hydrophilic gel matrix tablets. Eur J Pharm Biopharm (1998) 1.07

Influence of leucine on arterial concentrations and regional exchange of amino acids in healthy subjects. Clin Sci (Lond) (1980) 1.07

Long-term clinical outcome in patients with glutathione synthetase deficiency. J Pediatr (2001) 1.07