Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis

UDP-N-acetylglucosamine Transporter (SLC35A3) Regulates Biosynthesis of Highly BranchedN-Glycans and Keratan Sulfate

(2013) Dorota Maszczak-Seneczko et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

(2012) Simon Edvardson et al.   ANNALS OF NEUROLOGY

Developmental diseases caused by impaired nucleotide sugar transporters

(2012) Li Liu et al.   GLYCOCONJUGATE JOURNAL

Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

(2011) Sevjidmaa Baasanjav et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prevalence of Autism Spectrum Disorders in a Total Population Sample

(2011) Young Shin Kim et al.   AMERICAN JOURNAL OF PSYCHIATRY

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

(2011) Joachim Hallmayer   ARCHIVES OF GENERAL PSYCHIATRY

The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation

(2011) Luisa Sturiale et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Protein Interactome Reveals Converging Molecular Pathways Among Autism Disorders

(2011) Y. Sakai et al.   Science Translational Medicine

Golgi Glycosylation

(2011) P. Stanley   Cold Spring Harbor Perspectives in Biology

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

(2010) Simone Berkel et al.   NATURE GENETICS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Tissue-Specific mRNA Expression Profiles of Human Solute Carrier 35 Transporters

(2009) Masuhiro Nishimura et al.   Drug Metabolism and Pharmacokinetics

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

(2009) T Furuichi et al.   JOURNAL OF MEDICAL GENETICS

Mass spectrometry in the characterization of human genetic N-glycosylation defects

(2008) Rita Barone et al.   MASS SPECTROMETRY REVIEWS