N Birkebaek

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UNLABELLED Barth syndrome involves cardiomyopathy, skeletal myopathy, neutropenia and 3-methylglutaconic (3-mgc) aciduria. 3-mgc aciduria has been observed in almost all reported cases and has served as a diagnostic criterion. CONCLUSION A case of confirmed BTHS, but without 3-mgc aciduria, emphasizes the importance of extensive investigations in cases(More)
OBJECTIVE To describe the craniofacial morphology, dentition, and hand maturity in four siblings with Seckel syndrome. PATIENTS Two boys and two girls, with Seckel syndrome. The children studied showed extreme growth retardation, severe microcephaly, bird-headed profile with receding chin, prominent nose, mental retardation, and extremely delayed skeletal(More)
OBJECTIVE Treatment of type 1 diabetes has been intensified aiming at normalizing blood glucose, which may increase the risk of severe hypoglycemia (SH). We aimed to compare the incidence of SH events in the four Nordic countries Denmark, Iceland, Norway and Sweden, and to assess the influence of hemoglobin A1c (HbA1c) and treatment modalities on the(More)
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