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Article
Open AccessResource utilization and costs of transitioning from pediatric to adult care for patients with chronic autoinflammatory and autoimmune disorders
A structured transition of adolescents and young adults with chronic autoinflammatory and autoimmune disorders from the pediatric to the adult health care system is important. To date, data on the time, proces...
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Article
Open AccessResource use and costs of transitioning from pediatric to adult care for patients with chronic kidney disease
The structured transition of adolescents and young adults with chronic kidney disease (CKD) from pediatric to adult care is important, but data on the time and resources required for the necessary components o...
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Article
Open AccessExome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project)
Endocrine disorders are heterogeneous and include a significant number of rare monogenic diseases.
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Article
Open AccessTransition for adolescents with a rare disease: results of a nationwide German project
The transition process from paediatric/adolescent to adult medical care settings is of utmost importance for the future health of adolescents with chronic diseases and poses even more difficulties in the conte...
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Article
Open AccessTopical glucocorticoid application causing iatrogenic Cushing’s syndrome followed by secondary adrenal insufficiency in infants: two case reports
Iatrogenic Cushing’s syndrome induced by oral and parenteral glucocorticoid administration is a well-known complication. Immediate withdrawal from exogenous steroids can lead to life-threatening adrenal insuff...
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Article
Open AccessNear-Adult Heights and Adult Height Predictions Using Automated and Conventional Greulich–Pyle Bone Age Determinations in Children with Chronic Endocrine Diseases
To validate adult height predictions (BX) using automated and Greulich–Pyle bone age determinations in children with chronic endocrine diseases.
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Article
Open AccessEin strukturierter Versorgungspfad von der Pädiatrie in die Erwachsenenmedizin für Jugendliche und junge Erwachsene mit einer seltenen Erkrankung
Die erfolgreiche Organisation und Umsetzung des Übergangs von Jugendlichen und jungen Erwachsenen mit einer chronischen seltenen Erkrankung aus der Pädiatrie in eine Versorgungsform (Transition) und Versorgung...
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Article
Open AccessDer klinische Versorgungspfad zur multiprofessionellen Versorgung seltener Erkrankungen in der Pädiatrie – Ergebnisse aus dem Projekt TRANSLATE-NAMSE
Seltene Erkrankungen (SE) manifestieren sich ganz überwiegend im Kindes- und Jugendalter, sind heterogen, multisystemisch, haben meist einen chronischen Verlauf und stellen eine große Herausforderung für alle ...
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Article
Open AccessAn Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee
Diagnosis, treatment, and care of patients with rare diseases require multidisciplinary cooperation between medical and paramedical specialities and with patients and families. Innovative genetic diagnostics, ...
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Article
Open AccessKidney re-transplantation in a child across the barrier of persisting angiotensin II type I receptor antibodies
Approximately 20% of antibody-mediated rejection (ABMR) episodes in the absence of donor-specific antibodies against human leucocyte antigens (HLA-DSA) in pediatric and adult kidney transplant recipients are a...
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Article
Analysis of the functional muscle–bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography
Bone disease in patients with phenylketonuria (PKU) is incompletely characterized. We therefore analyzed, in a cross-sectional study radius macroscopic bone architecture and forearm muscle size by peripheral q...
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Article
Inhibition of IGF-I–related intracellular signaling pathways by proinflammatory cytokines in growth plate chondrocytes
Children with chronic inflammatory diseases suffer from severe growth failure associated with resistance toward the anabolic action of insulin-like growth factor I (IGF-I). We hypothesized that proinflammatory...
