Zobrazeno 1 - 10
of 214
pro vyhledávání: '"O, Trygstad"'
Publikováno v:
University of Copenhagen
Two well-characterized patients with congenital, generalized lipodystrophy have been studied by the euglycaemic hyperinsulinaemic clamp technique in combination with indirect calorimetry. Furthermore, glycogen synthase in muscle biopsies was studied
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10b55f4ebddc302e945667c907fd008b
https://doi.org/10.1111/j.1651-2227.1996.tb14263.x
https://doi.org/10.1111/j.1651-2227.1996.tb14263.x
Autor:
C vanderHagen, L. Vanmaldergem, Tobias Gedde-Dahl, B Olaisen, P. Hilbert, B. Mevåg, M Stenersen, O. Trygstad, Jocelyne Magré, J. Weissenbach, J Copeau, C Desbois-Mouthon, S. Fauré, Corinne Vigouroux
Publikováno v:
Scopus-Elsevier
Five of the six families with the Berardinelli-Seip syndrome in Norway cluster in six adjacent rural municipalities of south-western Norway. The six patients from this area were born between 1951 and 1973, none between 1974 and 1995. The absence of n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8492187d528751cd52fed3412cbd731
https://doi.org/10.1111/j.1651-2227.1996.tb14266.x
https://doi.org/10.1111/j.1651-2227.1996.tb14266.x
Publikováno v:
Archives of Disease in Childhood. 66:1275-1278
During the period 1970 to 1985, 539 constitutionally tall girls were treated with ethinyloestradiol in varying dosages to reduce final height. They all had a predicted final height above 181 cm (greater than +2.5 SD). The girls were all healthy and w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::081dea130b2486d6bc70d238d5f7dcf7
https://doi.org/10.1136/adc.66.11.1275
https://doi.org/10.1136/adc.66.11.1275
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
Autor:
N. Baudic, M. Lanza, Stephen O'Rahilly, H. Loret, P. Bogalho, Frédéric Huet, Philippe Labrune, Bourut C, O. Trygstad, J. A. Maassen, C R Kahn, Didier Lacombe, J.-J. Robert, Eric M. Sobel, Corinne Vigouroux, M. De Kerdanet, A. Bachy, Jacqueline Capeau, P. Tric, Frederick J. Raal, Barry I Joffe, T. Stephenson, André Mégarbané, Lionel Van Maldergem, F. H. D'abronzo, J. L. Medina, Jocelyne Magré, Roger Assan, A. Nivelon-Chevalier, Alain Verloes, Muriel Meier, Paul Czernichow, Fumihiko Matsuda, S. Savasta, E. Seemanova, Vanessa R. Panz, N. Tubiana-Rufi, G. Loyson, Jean Weissenbach, Eliane Khallouf, Florin Grigorescu, P. Freitas, Tobias Gedde-Dahl, Marc Delepine, Jeanette C. Papp, J. Navarro, Mark Lathrop, Meraida Polak, F. Bonnicci
Publikováno v:
Nature genetics. 28(4)
Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome (BSCL), is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33f1d317e44baa847de028fb9ade2222
https://pubmed.ncbi.nlm.nih.gov/11479539
https://pubmed.ncbi.nlm.nih.gov/11479539
Autor:
O Trygstad, M Seip
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992). Supplement. 413
This review is based on longitudinal studies on our seven patients with congenital generalized lipodystrophy, our patient with acquired generalized lipodystrophy, and published papers on these subjects. An inability to store energy in adipose tissue
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::845c7fbe7c7759bf65c64006ac802bad
https://pubmed.ncbi.nlm.nih.gov/8783769
https://pubmed.ncbi.nlm.nih.gov/8783769
Autor:
T, Gedde-Dahl, O, Trygstad, L, Van Maldergem, J, Magré, C B, van der Hagen, B, Olaisen, M, Stenersen, B, Mevåg
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992). Supplement. 413
Five of the six families with the Berardinelli-Seip syndrome in Norway cluster in six adjacent rural municipalities of south-western Norway. The six patients from this area were born between 1951 and 1973, none between 1974 and 1995. The absence of n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e0f3c242015ce414698b4a265a6d3fb5
https://pubmed.ncbi.nlm.nih.gov/8783773
https://pubmed.ncbi.nlm.nih.gov/8783773
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 113(10)
Evaluation of 158 patients younger than 25 years-of-age who had been hospitalized in a specialized adult endocrine department during an 11 year-period, brought to light specific endocrine problems connected both to pediatrics and internal medicine. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4270f6658e52067cb3daac9c4048aa49
https://pubmed.ncbi.nlm.nih.gov/8362401
https://pubmed.ncbi.nlm.nih.gov/8362401
Publikováno v:
Acta dermato-venereologica. 72(2)
In the present study, the development of acne lesions was studied in boys deemed to be too tall, for which they were treated with injections of androgens. In a retrospective and a prospective group of pubertal boys, an increased incidence of acne was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::94400076353db5dd7b78f7bbe3d88ca8
https://pubmed.ncbi.nlm.nih.gov/1350406
https://pubmed.ncbi.nlm.nih.gov/1350406
Autor:
O Trygstad
Publikováno v:
Pediatric Research. 33:S40-S40
The P-L-W syndrome is assumed to be cause by hypothalamic dysfunction. Patients have increased appetite,severe obesity, disturbed pubertal development and growth retardation,reduced sensitivity for pain, disturbed body temperatur regulation and muscu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::947d0b879d98b1f61754c7fa161eec9c
https://doi.org/10.1203/00006450-199305001-00221
https://doi.org/10.1203/00006450-199305001-00221
Publikováno v:
Acta Endocrinologica. 113:S458-S467
Plasma concentrations of 25-hydroxyvitamin D (25-OHD), 1,25-dihydroxyvitamin D (1,25-(OH)2D), 24,25-dihydroxyvitamin D (24,25-(OH)2D) and vitamin D-binding protein (DBP) were measured in 12 pubertal girls (aged 10-18 yr) with anorexia nervosa in rela
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::236308c21842e1156680689093fbd4d5
https://doi.org/10.1530/acta.0.112s458
https://doi.org/10.1530/acta.0.112s458