Results 31 to 40 of about 71,266 (366)

Deficiency indices for singular magnetic Schrödinger operators [PDF]

Milan J. Math, published online 2024, 2023
We show that the deficiency indices of magnetic Schr\"odinger operators with several local singularities can be computed in terms of the deficiency indices of operators carrying just one singularity each. We discuss some applications to physically relevant operators.
arxiv   +1 more source

Obesity in 21-hydroxylase deficient patients [PDF]

Archives of Disease in Childhood, 1998
To evaluate the natural history and timing of adiposity rebound (nadir of body mass index (BMI)) in children with congenital adrenal hyperplasia 21-hydroxylase deficiency (CYP21).A retrospective mixed longitudinal study.Height and changes in body composition (BMI; weight (kg)/height2 (m)), triceps and subscapular skinfolds) were analysed in 22 (14 ...
Rodica E Cornean, Peter C. Hindmarsh, Charles G. D. Brook   +2 more
openaire   +3 more sources

Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene [PDF]

, 2014
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism and accounts for 90–95% of CAH cases.
Bruque, Carlos David, Buzzalino, Noemí Delia, Ceballos, Nora Raquel, Dain, Liliana Beatriz, Gómez Acuña, Luciana Inés, Scaia, María Florencia, Stivel, M., Taboas, Melisa Ivana   +7 more
core   +8 more sources

Relationships of Basal Level of Serum 17-Hydroxyprogesterone with that of Serum Androstenedione and Their Stimulated Responses to a Low Dose of ACTH in Young Adult Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency [PDF]

, 2011
A single measurement of serum 17α-hydroxyprogesterone (17OHP) level can be unreliable because of its marked diurnal variation. We investigated the relationship of serum level of 17OHP with that of androstenedione (AD), which shows a smaller diurnal ...
Barnes, Cavallo, Charmandari, Choong Ho Shin, Colak, Conway, Gardner, Ghizzoni, Hindmarsh, Horton, Ilondo, Keenan, Korth-Schutz, Luboshitzky, Min Jae Kang, Sei Won Yang, Shin Mi Kim, Speiser, Speiser, Strott, Strott, Unlühizarci, von Schnakenburg, Yi, Young Ah Lee   +24 more
core   +2 more sources

Influence of oxygen concentration on the metabolism of Penicillium chrysogenum

Engineering in Life Sciences, Volume 23, Issue 1, January 2023., 2023
Abstract In large‐scale bioreactors, there is often insufficient mixing and as a consequence, cells experience uneven substrate and oxygen levels that influence product formation. In this study, the influence of dissolved oxygen (DO) gradients on the primary and secondary metabolism of a high producing industrial strain of Penicillium chrysogenum was ...
Agnes Janoska, Jelle J. Verheijen, Wenjung Tang, Queenie Lee, Baukje Sikkema, Walter M. van Gulik   +5 more
wiley   +1 more source

Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant

Frontiers in Pediatrics, 2020
Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes (cholesterol side-chain cleavage enzyme; 3β-hydroxysteroid dehydrogenase; 17α-hydroxylase/17,20 lyase; P450 oxidoreductase; 21 ...
Antonio Balsamo, Federico Baronio, Rita Ortolano, Soara Menabo, Lilia Baldazzi, Valeria Di Natale, Sofia Vissani, Alessandra Cassio   +7 more
doaj   +1 more source

Location of the gene for 21-hydroxylase deficiency. [PDF]

Journal of Medical Genetics, 1980
HLA typing of 33 families with one or more children suffering from congenital adrenal hyperplasia confirmed that the gene for 21-hydroxylase deficiency is closely associated with the HLA region. Analysis of two families in which recombination of chromosome 6 had occurred indicated that the gene locus is between the A and D loci of the HLA region.
M A Reynolds, J S Fitzsimmons, V Pucholt, K Gelsthorpe, R D Milner   +4 more
openaire   +3 more sources

Functional consequences of seven novel mutations in the CYP11B1 Gene: four mutations associated with nonclassic and three mutations causing classic 11 -Hydroxylase Deficiency [PDF]

, 2010
Context: Steroid 11β-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Cases of nonclassic 11OHD are rare compared with the incidence of nonclassic 21-hydroxylase deficiency.
Araujo-Vilar, D., Arlt, Wiebke, Castro-Feijoo, L., Cole, T. R., Conway, G. S., Dhir, V., Dominguez, F., Hampel, R., Kaminsky, E., Kirk, J. M., Krone, Nils, Loidi, L., Parajes, S., Pombo, M., Quinkler, M., Reisch, N., Rose, I. T., Rumsby, G., Williams, E. L.   +18 more
core   +2 more sources

Index formulas and charge deficiencies on the Landau levels [PDF]

J.Math.Phys.51:023509,2010, 2010
The notion of charge deficiency from Avron, Seiler, Simon (Charge deficiency, charge transport and comparison of dimensions, Comm. Math. Phys. 159) is studied from the view of $KK$-theory and is applied to the Landau levels in $\C^n$. We calculate the charge deficiencies of the higher Landau levels in $\C^n$ by means of an Atiyah-Singer type index ...
arxiv   +1 more source

Neonatal screening: identification of children with 11β-hydroxylase deficiency by second-tier testing [PDF]

, 2012
21-Hydroxylase deficiency (21-OHD) is the target disease of newborn screening for congenital adrenal hyperplasia (CAH). We describe the additional detection of patients suffering from 11β-hydroxylase deficiency (11-OHD) by second-tier testing.Over a ...
Brack, Christoph, Heger, Sabine, Janzen, Nils, Korsch, Eckhard, Krull, Friedrich, Müller, Hermann L, Peter, Michael, Riepe, Felix G, Sander, Johannes, Sander, Stefanie, Steuerwald, Ulrike   +10 more
core   +1 more source