3 Result(s)
within
Pediatrics
Norbert Jorch
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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 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
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...
