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The role of language in self-regulation and social behavior in children with an extra X chromosome

Brain development in children with an extra X chromosome as compared to children with autism: evidence from MRI

The programme of the 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY. International Workshop theme: 'A life-course perspective'

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Conference, Workshop

Local Knowledge Syndrome and Donor-Promoted Public Sector Reforms in Developing Countries. Effective development often fails because relief organizations don't study the local knowlegde and problems, says Moosa Elayah. A Local Bank of Knowledge can be the answer.

FSW Professor Jan Dirk Blom has written a book on Alice in Wonderland syndrome. This is the first scientific book on this rare disorder, which was first described in 1955 by the British psychiatrist John Todd. Todd was inspired by the famous book by Lewis Carroll, in which Alice experiences all kinds…

On this digital video wall, you can find the videos provided by several attendees of the XY workshop 2022.

TRIXY is a national Center of Expertise, in which clinical professionals and expert researchers work together to improve knowledge and clinical care for children with X and Y chromosome trisomies.

The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY will be held at The Academy Building, Rapenburg 73, Leiden. It is situated in the city center, close to hotels, restaurants and attractions.

Registration is open.

We warmly welcome late abstracts for Poster Communications! Late abstracts submission closes on the 1st of August 2022.

The research described in this thesis has, using the zebrafish as a model system, shed new light on the intricate relationship between TB and DM2, in particular on the role of leptin, SHP-1 and glucocorticoids.

Promotor: Prof.dr. J. den Hertog

Netherton Syndrome (NTS) is a rare genetic skin disease caused by mutations in the serine protease inhibitor Kazal-type 5 gene, which encodes the lympho-epithelial Kazal-type-related inhibitor. NTS patients have a profound impaired skin barrier function. Because SC lipids play a crucial role in the…

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When children wean off from heavy medication, they often experience withdrawal symptoms. The severity of these symptoms is often difficult to predict. Pharmacologist Bas Goulooze developed a computer model to determine the best weaning strategy for each child. His research has now been published in…

The more opportunities a child has to learn and develop, the stronger his or her future position in society. Leiden University investigates how the brain picks up information, and how learning processes can be influenced positively.

An interdisciplinary team of Leiden researchers has discovered that wasting syndrome, a severe byproduct of tuberculosis, is the same for all humans and animals studied. The discovery offers new opportunities to investigate the still insufficiently understood condition. The scientists also developed…

Cardiovascular disease is the number one cause of death worldwide. The most important risk factor for developing this disease is high cholesterol levels in the blood.

PhD defence

This longitudinal study is focused on neurodevelopmental problems in young children with XXY, XXX and XYY, aged 1 to 6 years.

Persistent somatic symptoms are long term symptoms that lack a clear medical explanation. These symptoms have a high prevalence where most people know someone who experiences such symptoms or they experience such symptoms themselves. Symptoms can vary greatly in and between people. While one person…

In this thesis, I study 1) metabolic alterations in tuberculosis related to wasting syndrome in human patients as well as in rodent and fish animal models. 2) effects of the mutation of the leptin gene on cachexia and diabetes in rodent and zebrafish animal models.

A main goal of MSBB research is to address the major bottle-necks in combatting viral diseases: the lack of experimental models that are representative of human pathology and are cost effective and versatile. Viral diseases such as those that cause viral hemorrhagic syndromes or severe acute respiratory…

Cardiovascular syndromes are the major cause of death in Western societies.

Research projects

Through metabolism, biochemical processes give rise to the complexity of life. Acquired and inborn errors in metabolism underlie many diseases occurring in man. The challenge for present day medical biochemistry is to find, and integrate, pieces of information at molecular, cell and organismal level…

PhD defence

The overarching clinical aim of this thesis was to improve pharmacological pain management by characterizing the pharmacodynamics of analgesics.

PhD defence

What are the most important perpetuating factors of chronic fatigue and chronic fatigue syndrome, and which interventions are effective in influencing these factors?

PhD defence

Through metabolism, biochemical processes give rise to the complexity of life. Acquired and inborn errors in metabolism underlie many diseases occurring in man. The challenge for present day medical biochemistry is to find, and integrate, pieces of information at molecular, cell and organismal level…

Desinging Your Life helps students at Leiden University to design their life path and face the future with confidence. On this website, you find all you need to know about your Designing Your Life opportunities in Leiden.

Promotor: H.S. Overkleeft, Co-promotor: M. van der Stelt

PhD defence

PhD defence

This thesis describes biochemical investigations of glucocerebrosidase (GBA), the lysosomal β- glucosidase that is deficient in Gaucher disease (GD).

Promotor: H.S. Overkleeft, Co-promotor: M. van der Stelt

Promotor: J. A. Bouwstra

Promotor: Prof.dr. J. Kuiper

The effectiveness of the skin barrier underlies the outer layer of the skin: the stratum corneum (SC). However, in several skin diseases this barrier is impaired. In two inflammatory skin diseases, atopic eczema and Netherton syndrome, an increased level of monounsaturated fatty acids (MUFAs) has been…