In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that
LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass …

BACKGROUND AND PURPOSE: Metachromatic leukodystrophy (MLD) is a devastating
demyelinating disease for which novel therapies are being tested. We hypothesized that MR …

We report a patient with the characteristic features of the brittle cornea syndrome, a rare,
autosomal recessively inherited disorder, namely brittle corneae, blue sclerae, and red hair. The …

Metachromatic leukodystrophy refers to a group of genetic neurologic diseases caused by
deficiencies of the enzyme arylsulfatase A and the resulting accumulation of sulfatides in …

Leukodystrophies are a group of rare, genetic diseases, which affect myelin, the major
constituent of brain and spinal cord white matter. Patients suffer from numerous, progressive …

In this pediatric case of vanishing white matter disease with early onset, rapidly progressive
course, and fatal outcome, the white matter vanishing process in patient was for the first time …

The neuronal ceroid lipofuscinoses are a heterogeneous group of relatively frequent genetic
progressive disorders of the brain and eyes that mostly begin during childhood. They share …

This paper describes a high-performance WLAN 802.11a/b/g radio transceiver, optimized for
low-power in mobile applications, and for co-existence with cellular and Bluetooth systems …

Das Kohlschütter-Tönz-Syndrom ist eine seltene genetische Erkrankung, die mit neurologischen
Symptomen – Epilepsie und schwere globale Entwicklungsstörung – sowie einer …

genetic and electron microscopic studies, and for a small group of poorly known NCL forms
a real scientific project is necessary [2, 3]. At this point, our willingness to invest a reasonable …