Zobrazeno 1 - 10 of 41 pro vyhledávání: '"D. J. Carson"'
4
Necropsy findings in lysinuric protein intolerance
Autor: C. M. Hill, R. Moore, D. J. Carson, C. Rodgers, Damian T. McManus, A. H. G. Love
Publikováno v: Journal of Clinical Pathology. 49:345-347
Lysinuric protein intolerance (LPI) is a rare autosomal recessive inborn error of metabolism, characterised by defective transport of the cationic amino acids lysine, arginine and ornithine. To date there are few reported necropsy cases. This report
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b262bb2326e980b950a682c2e772a723
https://doi.org/10.1136/jcp.49.4.345
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5
Radiological assessment of the hand and wrist in phenylketonuria and hyperphenylalaninaemia
Autor: Paul S. Thomas, L. G. Greeves, D. J. Carson
Publikováno v: Pediatric Radiology. 25:353-355
A radiograph of the left hand and wrist was taken in 141 children and young adults with phenylketonuria and hyperphenylalaninaemia. Ten (7.1%) had a bony abnormality and, of these, six (4.3%) showed evidence of reduced bone density. Only one patient
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6efb7be39733b1fd7ff5e9308b008328
https://doi.org/10.1007/bf02021701
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6
Facio-cardio-renal (Eastman-Bixler) syndrome
Autor: A. E. Hill, Norman C. Nevin, D. J. Carson
Publikováno v: American Journal of Medical Genetics. 40:31-33
We report on a 5-year-old boy with moderate mental retardation, horseshoe kidneys, tricuspid valve prolapse, and a characteristic face with broad nasal root, prominent ears, and a cleft palate. These manifestations suggested the diagnosis of the East
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::735883d0eb59018a6baf1e614d725d7b
https://doi.org/10.1002/ajmg.1320400106
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7
Neuroblastoma in a patient with dihydropteridine reductase deficiency
Autor: D. J. Carson, S. I. Dempsey, K. Hyland, L. G. Greeves, R. J. Leeming
Publikováno v: European Journal of Pediatrics. 149:713-715
Tetrahydrobiopterin (BH4) deficiency is a rare cause of hyperphenylalaninaemia (HPA) and usually leads to progressive neurological deterioration despite early dietary control of plasma phenylalanine concentrations. Dihydropteridine reductase (DHPR) d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43fbf394f8949d29420570d08d546b4e
https://doi.org/10.1007/bf01959529
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8
Autopsy findings in the Wolcott-Rallison syndrome
Autor: C M, Thornton, D J, Carson, F J, Stewart
Publikováno v: Pediatric pathologylaboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association. 17(3)
Wolcott-Rallison syndrome is a rare autosomal recessive condition characterized by diabetes mellitus arising in early infancy and multiple epiphyseal dysplasia. To date, nine cases have been described in the world literature. We report an affected gi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::38610ddba726324e220f6cfe8fa6cee0
https://pubmed.ncbi.nlm.nih.gov/9185226
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10
Epidemiology of childhood IDDM in Northern Ireland 1989-1994: low incidence in areas with highest population density and most household crowding. Northern Ireland Diabetes Study Group
Autor: C C, Patterson, D J, Carson, D R, Hadden
Publikováno v: Diabetologia. 39(9)
During the period 1989-1994, 462 cases of insulin-dependent diabetes mellitus were registered among children from Northern Ireland aged under 15 years. The estimated completeness of the register was 98.8% (95% confidence interval (CI) 97.7%, 99.9%).
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a24ff0ab423834cb056e79caf188d3fc
https://pubmed.ncbi.nlm.nih.gov/8877290
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