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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: steinmann b. Eur J Pediatr. 1993 Jan;152(1):44-50. doi: 10.1007/BF02072515. Eur J Pediatr. 1993. PMID: 7680315
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia.
Giedion A, Boltshauser E, Briner J, Eich G, Exner G, Fendel H, Kaufmann L, Steinmann B, Spranger J, Superti-Furga A. Giedion A, et al. Among authors: steinmann b. Eur J Pediatr. 1997 Mar;156(3):214-23. doi: 10.1007/s004310050587. Eur J Pediatr. 1997. PMID: 9083764
Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule.
Superti-Furga A, Steinmann B. Superti-Furga A, et al. Among authors: steinmann b. Biochem Biophys Res Commun. 1988 Jan 15;150(1):140-7. doi: 10.1016/0006-291x(88)90497-4. Biochem Biophys Res Commun. 1988. PMID: 3337712
398 results