Zobrazeno 1 - 10
of 182
pro vyhledávání: '"J. Knudtzon"'
Publikováno v:
Journal of Medical Genetics. 33:700-703
X linked hypophosphataemia (XLH) results from an abnormality of renal tubular phosphate reabsorption. The disorder is inherited as an X linked dominant trait and the gene has been mapped to Xp22.1-p22.2. A candidate gene (PEX) has recently been isola
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ee7eec6c1a40955548ffac47a519f7b
https://doi.org/10.1136/jmg.33.8.700
https://doi.org/10.1136/jmg.33.8.700
Autor:
J, Knudtzon
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 121(27)
The diagnosis of foreign body aspiration may easily be missed. Three children younger than three years of age inhaled, respectively, popcorn, a plastic pearl, and a piece of tape to the lungs. The children were admitted to the paediatric department u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ab79e4deaa4974d67373abbae5478f01
https://pubmed.ncbi.nlm.nih.gov/11876138
https://pubmed.ncbi.nlm.nih.gov/11876138
Publikováno v:
American journal of medical genetics. 80(3)
The molecular basis of a patient with 5alpha-reductase deficiency was investigated in this study. This disease is a rare form of male pseudohermaphroditism with virilization during puberty. The child was raised as a girl, but had a male gender identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6799b32770750f11cb02f9b3f80e9a63
https://pubmed.ncbi.nlm.nih.gov/9843052
https://pubmed.ncbi.nlm.nih.gov/9843052
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 113(15)
During 1991 we examined 196 randomly chosen females born in 1925 and resident in Oslo. 40% had suffered fractures of the appendicular skeleton, most commonly of the forearm and the ankles, after the menopause. Results from bone mineral density measur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::50e7387c4640d95e6d37c34268d5dd9c
https://pubmed.ncbi.nlm.nih.gov/8322323
https://pubmed.ncbi.nlm.nih.gov/8322323
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
Autor:
C. M. Levy, J. Knudtzon
Publikováno v:
Clinical genetics. 43(1)
The classical features of Kallmann syndrome with anosmia and hypogonadotropic hypogonadism were observed in two sisters aged 13 and 19. They had additional malformations including anosmia, bilateral vesico-ureteral reflux and unilateral hearing loss.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4737e8825b2557cdb8f99a80231e574a
https://pubmed.ncbi.nlm.nih.gov/8462198
https://pubmed.ncbi.nlm.nih.gov/8462198
Autor:
J, Knudtzon, D, Aarskog
Publikováno v:
Hormone research. 39
The effects of treatment with human growth hormone (GH) for 2 years, followed by combined treatment with GH and oestradiol valerate, were studied in girls with Turner syndrome, aged 7.0-16.6 years. Height SDS (Turner standards) increased after GH tre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b5cca01b3d9d7dd89c49d714d98b92ad
https://pubmed.ncbi.nlm.nih.gov/8395456
https://pubmed.ncbi.nlm.nih.gov/8395456
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 112(6)
The prevalence of mental retardation defined as IQ less than 70 has been estimated as ranging between 6.7-11.9 per thousand children in the Nordic countries. Etiological factors can be found in 80% of patients with severe mental retardation (IQ less
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1d7741680bbf21bca9a3ee3b9aa6d6b3
https://pubmed.ncbi.nlm.nih.gov/1561594
https://pubmed.ncbi.nlm.nih.gov/1561594
Autor:
J, Knudtzon, T M, Johannessen
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 111(30)
A slight negative correlation (r = -0.198) was found between age at menarche and size of shoe in 106 women from a Norwegian organization for persons using shoe sizes larger than 41. The correlation between stature and size of shoe was smaller (r = 0.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ba9b31a1b05b8a859ec3b30e7144abe3
https://pubmed.ncbi.nlm.nih.gov/1780821
https://pubmed.ncbi.nlm.nih.gov/1780821
Autor:
S, Svane, J, Knudtzon
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 111(21)
A small ectopic liver on serosa of the gallbladder was demonstrated peroperatively in two patients with extrahepatic cholestasis and considerable distention of the biliary system. The histological architecture of the small liver was similar to that o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a599ea2275621bf99bec3bf8d1876f87
https://pubmed.ncbi.nlm.nih.gov/1948850
https://pubmed.ncbi.nlm.nih.gov/1948850