Author

C. Kehrer

3 papers indexed here

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Review Open access Oct 2026

Chromodomain Helicase DNA-Binding Domain 8 (CHD8) related neurodevelopmental disorder with overgrowth: a case series and a systematic literature review on neuroradiological findings

Chromodomain Helicase DNA-Binding Domain 8 (CHD8)-Related Neurodevelopmental Disorder with Overgrowth is a rare disorder, with approximately 120 cases reported to date. First, we report six cases that presented to our hospitals with intellectual disability, autism spectrum disorder and overgrowth and one related person...

L. Zerweck, Kathrin Grundmann-Hauser, C. Kehrer et al. · Journal of Rare Diseases · 0 citations

Sep 2026

Allogeneic haematopoietic stem cell transplantation in late-onset metachromatic leukodystrophy.

Comparing the long-term outcomes of the largest European cohort of HSCT-treated and untreated late-juvenile and adult MLD patients provides an evidence base for future comparison with innovative therapies and underscores the importance of early diagnosis and intervention.

D. Schoenmakers, M. Datema, Shanice Beerepoot et al. · Brain : a journal of neurolo... · 0 citations

Open access Oct 2026

Clinical management of metachromatic leukodystrophy cases identified in the German and Austrian Newborn screening pilots

The results from the world’s first NBS pilots demonstrate that NBS enables reliable early identification of MLD and support streamlined care pathways leading to timely intervention, and substantiate the value of NBS for MLD at a critical moment as several countries consider national implementation of MLD screening.

L. Laugwitz, Pascal Martin, N. Janzen et al. · Orphanet Journal of Rare Dis... · 0 citations