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–…

… van Geel, Marianne de Visser, Bwee T. Poll–The, Stephan Kemp, X-linked adrenoleukodystrophy
in women: a cross-sectional cohort study, Brain, Volume 137, Issue 3, March 2014, …

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The
disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane …

Objective. Infantile Pompe’s disease is a lethal cardiac and muscular disorder. Current
developments toward enzyme replacement therapy are promising. The aim of our study is to …

… and Klockgether, T. (1999) Glutathione depletion and neuronal cell death: the role of …
and Poll-The, BT (2002) Congenital microcephaly and seizures due to 3phosphoglycerate …

… Luan T. Tran collected, analyzed, and interpreted patient data and reviewed the article. Kether
Guerrero was … Pajusalu, and T. Haack report no disclosures relevant to the manuscript. E. …

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

… We therefore typed only the TSEN54 919G>T variant in our … were homozygous for the 919G>T
mutation and found them to … PCH2 carrying the same 919G>T mutation. We estimated that …

Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders
with prenatal onset. The common characteristics are cerebellar hypoplasia with variable …

Background and Purpose— Cerebral sinovenous thrombosis is a rare disease with severe
neurological sequelae. The aim of this retrospective multicenter study was to investigate the …