… (Wolf NI, unpublished results). Whether these results can be improved in comparison to one
of the established techniques by using citrate synthase as a reference enzyme has yet to be …

Notorious variability in the presentation of mitochondrial disease in the infant and young child
complicates its clinical diagnosis. Mitochondrial disease is not a single entity but, rather, a …

Objective An approved definition of the term leukodystrophy does not currently exist. The lack
of a precise case definition hampers efforts to study the epidemiology and the relevance of …

Background: In 1996 diagnostic criteria were published for adults with respiratory chain
disorders. Modified criteria for children were also recently proposed. Objective: To facilitate and …

… Wolf serves as communicating editor of the Journal of Inherited Metabolic Disease and
as editor for Neuropediatrics, both without payment. A. Vanderver has acted on an advisory …

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 …

SIL1 (also called BAP) acts as a nucleotide exchange factor for the Hsp70 chaperone BiP (also
called GRP78), which is a key regulator of the main functions of the endoplasmic …

Severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) is a rare disorder occurring
in young children often without a family history of a similar disorder. The earliest disease …

Objectives: The study was focused on leukoencephalopathies of unknown cause in order to
define a novel, homogeneous phenotype suggestive of a common genetic defect, based on …

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary
leukoencephalopathy that was originally identified by MRI pattern analysis, and it has …