… It is not unlikely that impairment of neuronal proliferation is related to the development of
microcephaly observed in patients with a defect in serine biosynthesis (TJ de Koning, O. …

The de novo synthesis of the amino acid l-serine plays an essential role in the development
and functioning of the central nervous system (CNS). l-Serine displays many metabolic …

Recent evidence has shown that d-amino acids are present in animals and humans in high
concentrations and fulfill specific biological functions. In the central nervous system, two d-…

Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is an
autosomal recessive disorder characterized by recurrent episodes of fever associated with …

Mucopolysaccharidosis type I–Hurler syndrome (MPS-IH) is a lysosomal storage disease
characterized by multisystem morbidity and death in early childhood. Although hematopoietic …

Hypomyelination is observed in the context of a growing number of genetic disorders that
share clinical characteristics. The aim of this study was to determine the possible role of …

Hurler syndrome (HS) is a severe inborn error of metabolism causing progressive multi-system
morbidity and death in early childhood. At present, stem cell transplantation (SCT) is the …

Background Three pregnancies with male offspring in one family were complicated by severe
polyhydramnios and prematurity. One fetus died; the other two had transient massive salt-…

d-Amino acids are increasingly being recognized as important signaling molecules in mammals,
including humans. d-Serine and d-aspartate are believed to act as signaling molecules …

… TJ de Koning and LWJ Klomp initiated the study and wrote first versions of the manuscript.
LWJ Klomp also participated in molecular studies. ACC van Oppen undertook prenatal and …