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Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA.
Superti-Furga A, Schoenle E, Tuchschmid P, Caduff R, Sabato V, DeMattia D, Gitzelmann R, Steinmann B. Superti-Furga A, et al. Among authors: schoenle e. Eur J Pediatr. 1993 Jan;152(1):44-50. doi: 10.1007/BF02072515. Eur J Pediatr. 1993. PMID: 7680315
Maternal uniparental disomy 7--review and further delineation of the phenotype.
Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BC, Ilyina H, Krajewska-Walasek M, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A. Kotzot D, et al. Among authors: schoenle e. Eur J Pediatr. 2000 Apr;159(4):247-56. doi: 10.1007/s004310050064. Eur J Pediatr. 2000. PMID: 10789928
Insulin injection regimens and metabolic control in an international survey of adolescents with type 1 diabetes over 3 years: results from the Hvidore study group.
Holl RW, Swift PG, Mortensen HB, Lynggaard H, Hougaard P, Aanstoot HJ, Chiarelli F, Daneman D, Danne T, Dorchy H, Garandeau P, Greene S, Hoey HM, Kaprio EA, Kocova M, Martul P, Matsuura N, Robertson KJ, Schoenle EJ, Sovik O, Tsou RM, Vanelli M, Aman J. Holl RW, et al. Eur J Pediatr. 2003 Jan;162(1):22-9. doi: 10.1007/s00431-002-1037-2. Epub 2002 Nov 26. Eur J Pediatr. 2003. PMID: 12486503
122 results