METHODS Clinical report Family 1 We re-examined the French family first reported in 1961
by Garcin et al, 16 in which members belonging to four generations were affected by …

To date, epimutations reported in man have been somatic and erased in germlines. Here,
we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B12 …

Objective: To provide a comprehensive systematic review of the literature by examining
studies published on all cognitive aspects of children with early and continuously treated …

Isolated complex I deficiency is a frequent cause of respiratory chain defects in childhood. In
this study, we report our systematic approach with blue native PAGE (BN-PAGE) to study …

Aim To describe the clinico‐radiological phenotype of children with a CACNA 1A mutation
and to precisely evaluate their learning ability and cognitive status. Method Children …

Since the original reports of hyperprolinaemia by Scriver et al1 and Shafer et al, 2 two types
of this rare metabolic disorder have been biochemically characterised3: type I (MIM 239500) …

PURPOSE: To determine whether patients' perception of early therapeutic alliance (TA)
could predict time to achieve a target weight among adolescents undergoing treatment for …

Aim Benign paroxysmal torticollis (BPT), benign paroxysmal vertigo (BPV), and benign tonic
upward gaze (BTU) are characterized by transient and recurrent episodes of neurological …

Patients under 5 years were not evaluated in the phase-3 study for enzyme replacement
therapy (ERT) in MPS IV A. Here we describe the evolution of a severe Morquio A pediatric …

Background: Metabolic and inflammatory conditions may lead to neurological disorders.
Neuromyelitis optica spectrum disorders (NMOSDs) refer to a rare group of demyelinating …