door admin | jun 6, 2019 | Nieuws
Tijdig de diagnose stellen voordat groeihormoontherapie wordt overwogen Het Bloom-syndroom (BS) is een zeldzame DNA-reparatiestoornis. Dit beeld kan op jonge leeftijd herkend worden aan de hand van de meest kenmerkende symptomen: pre- en postnatale groeiachterstand en...
door admin | jun 6, 2019 | Nieuws
Bloom Syndrome in Short Children Born Small for Gestational Age: A Challenging Diagnosis Background: GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is...
door admin | jun 3, 2019 | Nieuws
Abstract DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomal- recessive manner, but...
door admin | jun 3, 2019 | Nieuws
Abstract Bloom’s syndrome (BS) is an autosomal recessive disease, caused by mutations in the BLMgene. This gene codes for BLM protein, which is a helicase involved in DNA repair. DNA repair is especially important for the development and maturation of the T and B...
