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Article
Open AccessHealth-related quality of life of children with X-linked hypophosphatemia in Germany
X-linked hypophosphatemia (XLH) is a rare inherited phosphate-wasting disorder associated with bone and dental complications. Health-related quality of life (HRQoL) is reduced in XLH patients on conventional t...
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Article
Open AccessMicroRNA-profiling of miR-371~373- and miR-302/367-clusters in serum and cerebrospinal fluid identify patients with intracranial germ cell tumors
Intracranial germ cell tumors (iGCT) comprise germinoma and non-germinoma. Their diagnosis predominantly relies on biopsy as only one-fifth of patients present with elevated biomarkers (AFP/ß-HCG) in serum or ...
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Article
Open AccessPredictors of transient congenital primary hypothyroidism: data from the German registry for congenital hypothyroidism (AQUAPE “HypoDok”)
Neonatal screening for congenital primary hypothyroidism (CH) may not distinguish between transient (TCH) and permanent dysfunction (PCH), causing potential overtreatment and concerns in affected families. To ...
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Article
Genoty** circulating tumor DNA of pediatric Hodgkin lymphoma
We used hybrid capture-targeted next-generation sequencing of circulating cell-free DNA (ccfDNA) of pediatric Hodgkin lymphoma (PHL) patients to determine pathogenic mechanisms and assess the clinical utility ...
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Article
Valproic acid was well tolerated in heavily pretreated pediatric patients with high-grade glioma
Valproic acid (VPA) inhibits histone deacetylase and has been reported to induce apoptosis in glioma. We report 44 heavily pretreated pediatric patients with high-grade glioma or diffuse intrinsic pontine glio...
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Article
Topotecan, cyclophosphamide, and etoposide (TCE) in the treatment of high-risk neuroblastoma. Results of a phase-II trial
Relapsed high-risk neuroblastoma patients still have a poor prognosis. This phase-II trial assessed a new topotecan containing chemotherapy approach in patients with active disease.
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Article
Treatment options in childhood pontine gliomas
Pontine gliomas are the subgroup of brainstem gliomas with the worst prognosis. Controversial treatment approaches are discussed.
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Article
Venous sampling can be crucial in identifying the testicular origin of idiopathic male luteinising hormone-independent sexual precocity
It has been recently shown that male LH-independent sexual precocity is caused by a somatic activating mutation in the luteinising hormone receptor (LHR) of Leydig cell tumours. In each of the patients descri...
