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Neuropsychological functioning of children and adolescents (6-16) born with Congenital Adrenal Hyperplasia (CAH)

Objective of this pilot study is to investigate differences in neuropsychological functioning between CAH patients and healthy controls. Differences in neuropsychological functioning may influence the quality of life and daily functioning of…

Outcome study on gender identity, sexual functioning and psychological well being in patients with a disorder of sexual differentiation

In this study the prevalence and kind of sexual and psychosexual problems will be assessed. Psychological well being is studied as well

Advanced liver imaging in Gaucher Disease: a pilot study

To determine whether different MR-based imaging techniques and FibroScan can be used for the purpose of identifying and monitoring Gaucher Disease patients at high risk of developing disease related liver complications.

Blood pressure and steroid metabolism in the first year of life in patients with congenital adrenal hyperplasia (CAH): a longitudinal study

To evaluate the blood pressure within the first year of life we will perform a prospective longitudinal study in all newborn patients with the classical form of CAH. To analyze the urinary steroid profile in CAH patients and healthy controls during…

Does classic galactosemia affect male fertility?

Comparing fertilty of male galactosemia patients to a control group

Betacell and endothelial function in subjects with EXT-1 or EXT-2 mutations

Assessment of glucose homeostasis and endothelial function and glycocalyx status in 30 subjects with heterozygous mutations in EXT1 or EXT2 and 30 unaffected related controls.

Characterization of functionality of HDL in patients with familial hypercholesterolemia

1. to investigate whether the known chronic inflammatory and hyperoxidative state in patients with severely increased LDL is associated with dysfunctional HDL.2. to investigate whether CVD in FH is associated with dysfunctional HDL.

Effect of treatment with levothyroxine in a patient with thyroid hormone receptor *1 deficiency

Objective: The primary objective of the study is to determine the effect of standard treatment with levothyroxine in TR*1 deficiency on:- Neutrophil and macrophage function- Erythropoiesis- Thyroid hormone target gene expression- Plasma metabolome

A Phase 1, Double-blind, Randomized, Placebo-controlled, Single Ascending Dose Study To Evaluate The Safety, Tolerability, And Pharmacokinetics Of Paltusotine In Healthy Subjects

In this study we will investigate how safe specific doses of the compound paltusotine are and how well these are tolerated when they are used by healthy participants.We also investigate how much of the compound is broken down and absorbed in the…

Consequences of (recurrent) hypoglycaemia on cardiovascular and inflammatory responses in patients with diabetes mellictus type 1, type 2 and healthy volunteers

Primary objective:* To investigate the consequences of (recurrent) hypoglycaemia on inflammatory responsesSecondary objectives:* To study the atherogenic consequences of (recurrent) hypoglycaemia* To study the molecular mechanisms involved in the…