Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency

Mutations in ANTXR1 Cause GAPO Syndrome

(2013) Viktor Stránecký et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital myasthenic syndromes due to mutations inALG2andALG14

(2013) Judith Cossins et al.   BRAIN

Congenital disorders of glycosylation and intellectual disability

(2013) Lynne A. Wolfe et al.   Developmental Disabilities Research Reviews

Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

(2013) Hudson H. Freeze   JOURNAL OF BIOLOGICAL CHEMISTRY

Intellectual disability and bleeding diathesis due to deficient CMP-sialic acid transport

(2013) M. Mohamed et al.   NEUROLOGY

Targeted Biomarker Discovery by High Throughput Glycosylation Profiling of Human Plasma Alpha1-Antitrypsin and Immunoglobulin A

(2013) L. Renee Ruhaak et al.   PLoS One

MAN1B1 Deficiency: An Unexpected CDG-II

(2013) Daisy Rymen et al.   PLoS Genetics

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

(2012) Katsiaryna Belaya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Basis of Intellectual Disability

(2012) Jay W. Ellison et al.   Annual Review of Medicine

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

(2012) Zafar Iqbal et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

(2012) Sharita Timal et al.   HUMAN MOLECULAR GENETICS

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

(2011) Hao Hu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

(2011) Muhammad Arshad Rafiq et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cotton HILIC SPE Microtips for Microscale Purification and Enrichment of Glycans and Glycopeptides

(2011) Maurice H. J. Selman et al.   ANALYTICAL CHEMISTRY

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern

(2011) M. Mohamed et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement

(2011) Maïlys Guillard et al.   JOURNAL OF PEDIATRICS

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Automated measurement of permethylated serum N-glycans by MALDI–linear ion trap mass spectrometry

(2009) Maïlys Guillard et al.   CARBOHYDRATE RESEARCH

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

(2008) Masoud Garshasbi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

(2008) Florence Molinari et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Derivatization of sialic acids for stabilization in matrix-assisted laser desorption/ionization mass spectrometry and concomitant differentiation ofα(2 → 3)- andα(2 → 6)-isomers

(2008) Susan F. Wheeler et al.   RAPID COMMUNICATIONS IN MASS SPECTROMETRY