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 …

The amino acid l-serine, one of the so-called non-essential amino acids, plays a central role
in cellular proliferation. l-Serine is the predominant source of one-carbon groups for the de …

Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal
biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical …

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

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–…

Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal
recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia of …

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 …

X-linked adrenoleukodystrophy is the most common peroxisomal disorder. The disease is
caused by mutations in the ABCD1 gene that encodes the peroxisomal transporter of very long…

Barth syndrome (BTHS) is an X-linked recessive disorder caused by mutations in the tafazzin
(or TAZ) gene and is clinically characterized by (cardio)myopathy, neutropenia, and growth …