Zobrazeno 1 - 10
of 46
pro vyhledávání: '"U. Irle"'
Autor:
Christian L. Roth, P Heidemann, A Bökenkamp, J H Brämswig, W Hoepffner, Joachim Woelfle, M Zachmann, K Kubini, D Deiss, H A Wollmann, U Irle, W.G. Sippell, N Albers
Publikováno v:
Clinical Endocrinology. 56:231-238
Summary objective In girls with congenital adrenal hyperplasia (CAH), genital ambiguity usually leads to a rapid neonatal diagnosis. Rarely, CAH causes complete virilization and male sex assignment with a delayed diagnosis. After being confronted wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::42eddfaa0cdf0609426d6d2f5885ff5a
https://doi.org/10.1046/j.0300-0664.2001.01463.x
https://doi.org/10.1046/j.0300-0664.2001.01463.x
Autor:
R. Tratzmüller, H. Vogt, P. H. Heidemann, U. Irle, D. Knorr, Wolfgang Höppner, Henning Dralle
Publikováno v:
Monatsschrift Kinderheilkunde. 147:733-743
Hintergrund: Die multiple endokrine Neoplasie (MEN) Typ 2 mit ihren Subtypen MEN Typ 2a, Typ 2b und dem familiaren medullaren Schilddrusenkarzinom ist eine seltene autosomal-dominant erbliche Tumorerkrankung, die auf aktivierenden Keimbahnmutationen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::24bcee440dc7ae5b171a7fc28388f1c0
https://doi.org/10.1007/s001120050489
https://doi.org/10.1007/s001120050489
Autor:
J, Woelfle, W, Hoepffner, W G, Sippell, J H, Brämswig, P, Heidemann, D, Deiss, A, Bökenkamp, C, Roth, U, Irle, H A, Wollmann, M, Zachmann, K, Kubini, N, Albers
Publikováno v:
Clinical endocrinology. 56(2)
In girls with congenital adrenal hyperplasia (CAH), genital ambiguity usually leads to a rapid neonatal diagnosis. Rarely, CAH causes complete virilization and male sex assignment with a delayed diagnosis. After being confronted with very specific pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9f58aafb16c37ad58e843ed08a702e66
https://pubmed.ncbi.nlm.nih.gov/11874415
https://pubmed.ncbi.nlm.nih.gov/11874415
Autor:
L T, Rekers-Mombarg, G G, Massa, J M, Wit, A M, Matranga, J M, Buckler, O, Butenandt, J L, Chaussain, H, Frisch, E, Leiberman, R, Yturriaga, D, Aarskog, P G, Chatelain, M, Colle, C, Dacou-Voutetakis, H A, Delemarre-van de Waal, F, Girard, J J, Gosen, U, Irle, M, Jansen, R, Jean, J C, Job, M L, Kaar, F, Kollemann, H L, Lenko, J J, Waelkens
Publikováno v:
The Journal of pediatrics. 132(3 Pt 1)
In children with idiopathic short stature (ISS) we studied the growth-promoting effect at 4 years of recombinant human growth hormone (rhGH) therapy in three dose regimens and evaluated whether increasing the dosage after the first year could prevent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bd16883fa1a7b22a05a39c9a76f67025
https://pubmed.ncbi.nlm.nih.gov/9544901
https://pubmed.ncbi.nlm.nih.gov/9544901
Publikováno v:
Monatsschrift fur Kinderheilkunde. 124(7)
1. It was shown that special apparatus for cleaning milkbottles makes additional desinfection unnecessary with regard to bacteriological and hygienic aspects. -- 2. Milk-bottles should be processed centrally for safety reasons. Special basket-contain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1fd8ae7580fc2ef4b1f19b2c9362e28a
https://pubmed.ncbi.nlm.nih.gov/947274
https://pubmed.ncbi.nlm.nih.gov/947274
Publikováno v:
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde. 133(5)
Acanthocytosis was observed in a boy suffering from Chronic Granulomatous Disease (CGD). Further investigations revealed weak Kell-antigen-expression on the patient's erythrocytes. This so-called "McLeod-Syndrome" is due to the absence of Kx, the Kel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0d298e27acfa034200f253bb0550de9c
https://pubmed.ncbi.nlm.nih.gov/4040211
https://pubmed.ncbi.nlm.nih.gov/4040211
Publikováno v:
Klinische Padiatrie. 199(5)
Report on two males who exhibit a syndrome which reminds Prader-Willi-Labhart syndrome (PWLS) because of craniofacial dysmorphy, acromicria, hypogenitalism, obesity and mental deficiency. A supernumerary small marker chromosome was identified as dupl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3ec0c828d420cf0b8bf945b78ee15895
https://pubmed.ncbi.nlm.nih.gov/3316824
https://pubmed.ncbi.nlm.nih.gov/3316824
Autor:
I. Lombeck, H. v. Voss, H. J. Bremer, G. Siegel, D. B. v. Bassewitz, U. Irle, V. Herzog, B. Brauser, H. T. Versmold
Publikováno v:
European journal of pediatrics. 124(4)
A patient with a cerebro-hepato-renal syndrome was investigated. The visceral manifestations were those of the Zellweger syndrome (ZS); however, the child exhibited muscular hypertonia and survived into the 2nd year of life. Ultramicroscopically, hep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28d57e00697123e5db2f7cc7cd123ae1
https://pubmed.ncbi.nlm.nih.gov/844460
https://pubmed.ncbi.nlm.nih.gov/844460
Autor:
Marinus Duran, U. Irle, R. Baumgartner, D. Ketting, Claude Bachmann, H. J. Bremer, Sybe K. Wadman, L. Bruinvis, H. Przyrembel
Publikováno v:
European journal of pediatrics. 130(1)
An 11-year old girl with spastic paraplegia and mental retardation has suffered from attacks of metabolic acidosis since the age of 18 months. “Ketotic hyperglycinemia” was diagnosed when she was 3 years old. Reinvestigation at 9 1/2 years includ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f90ac2b0015844d7af65013cae57d0cf
https://pubmed.ncbi.nlm.nih.gov/759179
https://pubmed.ncbi.nlm.nih.gov/759179
Autor:
U, Irle
Publikováno v:
Die Agnes Karll-Schwester, der Krankenpfleger. 19(11)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bfd8751a93c2e25414617ce1e1ba4251
https://pubmed.ncbi.nlm.nih.gov/5174188
https://pubmed.ncbi.nlm.nih.gov/5174188