Correspondence to: J. Smeitink, Wilhelmina Kinder/iekenhui~,. Nieuwegracht 137. 3512 LK
Utrecht, Netherland,,. Abbreviations: ANT, adenine nuclcotide tran~ locator: C'S. contact …

Background: Genetic diseases that affect the biosynthesis of protein O-glycans are a rapidly
growing group of disorders. Because this group of disorders does not have a collective …

The clinical spectrum of the autosomal recessive cutis laxa syndromes is highly
heterogeneous with respect to organ involvement and severity. One of the major diagnostic …

We have calculated the relative frequency and the birth prevalence of lysosomal storage
diseases (LSDs) in The Netherlands based on all 963 enzymatically confirmed cases …

The aim of this study was to investigate local muscle O2consumption (muscV˙ o 2) and
forearm blood flow (FBF) in resting and exercising muscle by use of near-infrared …

Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in
the majority of patients and results in impaired glucose transport into the brain. From 2004 …

Environmental manganese (Mn) toxicity causes an extrapyramidal, parkinsonian-type
movement disorder with characteristic magnetic resonance images of Mn accumulation in …

Background Whole-exome sequencing has transformed gene discovery and diagnosis in
rare diseases. Translation into disease-modifying treatments is challenging, particularly for …

N-linked glycosylation is the most frequent modification of secreted and membrane-bound
proteins in eukaryotic cells, disruption of which is the basis of the congenital disorders of …

Background Congenital disorders of glycosylation are genetic syndromes that result in
impaired glycoprotein production. We evaluated patients who had a novel recessive …