Search Results - "Homoki, J"

Leydig Cell Hypoplasia: Absent Luteinizing Hormone Receptor Cell Surface Expression Caused by a Novel Homozygous Mutation in the Extracellular Domain by Richter-Unruh, A., Verhoef-Post, M., Malak, S., Homoki, J., Hauffa, B. P., Themmen, A. P. N.

“…Leydig cell hypoplasia is a rare autosomal recessive condition that interferes with normal development of male external genitalia in 46,XY individuals. We have…”
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Hormonal diagnosis of 21-hydroxylase deficiency in plasma and urine of neonates using benchtop gas chromatography-mass spectrometry by Wudy, SA, Hartmann, M, Homoki, J

“…We aimed at measuring the first plasma concentrations of 17-hydroxyprogesterone (17OH-P) determined by benchtop isotope dilution/gas chromatography-mass…”
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Thyroid autoimmunity in children and adolescents with type 1 diabetes mellitus. Effect of age, gender and HLA type by Holl, R W, Bohm, B, Loos, U, Grabert, M, Heinze, E, Homoki, J

“…Type 1 diabetes is often associated with additional autoimmune phenomena. However, data reported on the frequency of thyroid autoimmunity differ vastly…”
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17α-hydroxyprogesterone, 4-androstenedione, and testosterone profiled by routine stable isotope dilution/gas chromatography-mass spectrometry in plasma of children by WUDY, S. A, WACHTER, U. A, HOMOKI, J, TELLER, W. M

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Limited value of serum steroid measurements in identification of mild form of 21-hydroxylase deficiency by Török, D, Halász, Z, Garami, M, Homoki, J, Fekete, G, Sólyom, J

“…ACTH stimulation test is widely used as a basic diagnostic method for non-classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency…”
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Correlation of blood-spot 17-hydroxyprogesterone daily profiles and urinary steroid profiles in congenital adrenal hyperplasia by Erhardt, E, Sólyom, J, Homoki, J, Juricskay, S, Soltész, G

“…To compare the value of blood-spot 17-hydroxyprogesterone (17-OHP) daily profiles and urinary steroid excretion in untreated and treated patients with…”
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Hormonal and clinical effects of chronic gonadotropin-releasing hormone agonist treatment in polycystic ovary syndrome by Szilágyi, A., Homoki, J., Bellyei, Sz, Szabó, I.

“…The aim of the study was to evaluate the hormonal (focusing on the urinary steroid profile) and clinical effects of chronic gonadotropin-releasing hormone…”
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Synthesis of deuterium-labelled 17α-hydroxypregnenolone for use as internal standard in stable isotope dilution/mass spectrometry by Solleder, C., Schauber, T., Homoki, J., Wudy, S. A.

“…Using a 4‐step scheme, we have synthesized deuterium‐labelled 17α‐hydroxypregnenolone for use as internal standard for an isotope dilution/mass spectrometry…”
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Determination of dehydroepiandrosterone sulfate in human plasma by gas chromatography/mass spectrometry using a deuterated internal standard: a method suitable for routine clinical use by Wudy, S A, Wachter, U A, Homoki, J, Teller, W M

“…A capillary gas chromatographic-mass spectrometric method for the determination of dehydroepiandrosterone sulfate (DHEA-S) in human plasma is described…”
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Urinary excretion of 17-hydroxypregnanolones in patients with different forms of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency by HOMOKI, J, SOLYOM, J, WACHTER, U, TELLER, W. M

“…To improve diagnostic criteria in different (classical salt-wasting (SW), classical simple virilizing (SV) and non classical late onset (LO)) forms of…”
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Determination of cocaine in human hair by gas chromatography/mass spectrometry by Balabanova, S, Homoki, J

“…A qualitative method for the determination of cocaine alone without its metabolites in human hair by gas chromatography/mass spectrometry (GC/MS) was…”
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Bestimmung von Insulinresistenz und Insulinsensitivität bei Kindern und Jugendlichen by HEINZE, E, HORN, T, WABITSCH, M, WUDY, S, SORGO, W, HOMOKI, J

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Serum and urinary steroids in girls with precocious pubarche and/or hirsutism due to mild 3-beta-hydroxysteroid dehydrogenase deficiency by Sólyom, J, Halász, Z, Hosszú, E, Gláz, E, Vihko, R, Orava, M, Homoki, J, Wudy, S A, Teller, W M

“…To obtain data on the correlation of serum and urinary steroids in nonclassical 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency, 9 girls with…”
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Assessment of hypothalamic-pituitary-adrenocortical axis function in dexamethasone treated very low birth weight infants by a single dose metyrapone test and gas chromatographic mass spectrometric determination of urinary steroids by Wudy, S A, Homoki, J, Haack, D, Jung, D, Sorgo, W, Teller, W M, Bartman, P

“…In order to assess hypothalamic-pituitary-adrenocortical axis function, we conducted low and single oral dose metyrapone tests (35 mg/kg) in dexamethasone…”
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Severe hypoaldosteronism due to corticosterone methyl oxidase type II deficiency in two boys : metabolic and gas chromatography-mass spectrometry studies by HAUFFA, B. P, SOLYOM, J, GLAZ, E, SHACKLETON, C. H. L, WAMBACH, G, VECSEI, P, STOLECKE, H, HOMOKI, J

“…Infection-triggered, life-threatening salt-loss and hyperkalaemia developed in two male infants with wasting, inappropriately low plasma aldosterone…”
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The effects of cyproterone acetate on statural growth in children with precocious puberty by Sorgo, W, Kiraly, E, Homoki, J, Heinze, E, Teller, W M, Bierich, J R, Moeller, H, Ranke, M B, Butenandt, O, Knorr, D

“…Forty-four patients (42 f, 2 m) with precocious puberty (31 idiopathic, 1 familial, 7 cerebral, 5 McCune-Albright) were treated with cyproterone acetate for…”
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Detection of late onset steroid 21-hydroxylase deficiency by capillary gas chromatographic profiling of urinary steroids in children and adolescents by HOMOKI, J, SOLYOM, J, TELLER, W. M

“…Patients suffering from late onset 21-hydroxylase deficiency (LO-CAH) excreted only slightly higher amounts of 17-hydroxypregnanolone (17-OH-PO), pregnanetriol…”
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Uterine size in women with Turner syndrome after induction of puberty with estrogens and long-term growth hormone therapy: results of the German IGLU Follow-up Study 2001 by Doerr, Helmuth G., Bettendorf, Markus, Hauffa, Berthold P., Mehls, Otto, Partsch, Carl-Joachim, Said, Elfriede, Sander, Sabine, Schwarz, Hans-Peter, Stahnke, Nikolaus, Steinkamp, Heiner, Ranke, Michael B.

“…BACKGROUND: To evaluate the factors influencing uterine size in young adult women with Turner syndrome (TS) after long-term growth hormone (GH) treatment…”
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TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5 by Karges, Beate, Krause, Gerd, Homoki, Janos, Debatin, Klaus-Michael, de Roux, Nicolas, Karges, Wolfram

“…Mutations of the human thyrotrophin receptor (TSH-R) are a cause of thyroid adenomas and hyperthyroidism. Here we study mechanisms of receptor activation in a…”
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Characterization of the major steroids present in amniotic fluid obtained between the 15th and 17th weeks of gestation by Homoki, J, Roitman, E, Shackleton, C H

“…In pooled amniotic fluid obtained between the 15th and 17th weeks of gestation the concentration of free steroids and steroid glucuronides was found to be 40…”
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