Importance GLUT1 deficiency syndrome is a treatable neurometabolic disorder, characterized
by a low concentration of glucose in cerebrospinal fluid (CSF) and a decreased CSF to …

Motor problems in Prader–Willi syndrome (PWS) are presumably related to abnormal body
composition and certain neuromuscular abnormalities. The authors reviewed the literature to …

GLUT1 deficiency syndrome (GLUT1DS) is a treatable neurometabolic disorder in which
glucose transport into the brain is disturbed. Besides the classic phenotype of intellectual …

… Willemsen, Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic
spectrum of a treatable disorder, Brain, Volume 133, Issue 3, March 2010, Pages 655–670, …

Background Chemotherapy for the treatment of maternal cancers during pregnancy has
become more acceptable in the past decade; however, the effect of prenatal exposure to …

Tyrosine hydroxylase deficiency is an autosomal recessive disorder resulting from cerebral
catecholamine deficiency. Tyrosine hydroxylase deficiency has been reported in fewer than …

Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now
known to be critical in the regulation of gene expression, genomic stability, cell cycle and …

Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder
characterized by complex eye and brain abnormalities with congenital muscular dystrophy (CMD) …

We report on four families affected by a clinical presentation of complex hereditary spastic
paraplegia (HSP) due to recessive mutations in DDHD2, encoding one of the three …

Background: Immunodeficiency in ataxia telangiectasia (AT) is less severe in patients
expressing some mutant or normal ATM kinase activity. We, therefore, determined whether …