Congenital disorders of glycosylation: new defects and still counting

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

(2014) Monique Van Scherpenzeel et al.   BRAIN

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

(2014) Yu Zhang et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

(2014) Laura C. Tegtmeyer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Successful Liver Transplantation and Long-Term Follow-up in a Patient With MPI-CDG

(2014) M. C. H. Janssen et al.   PEDIATRICS

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

(2013) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

(2013) Peter M. Krawitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Perinatal and early infantile symptoms in congenital disorders of glycosylation

(2013) Simone Funke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Congenital myasthenic syndromes due to mutations inALG2andALG14

(2013) Judith Cossins et al.   BRAIN

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation

(2013) S. Shrimal et al.   HUMAN MOLECULAR GENETICS

De Novo Mutations inSLC35A2Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

(2013) Hirofumi Kodera et al.   HUMAN MUTATION

Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

(2013) Hudson H. Freeze   JOURNAL OF BIOLOGICAL CHEMISTRY

Thrombotic complications in patients with PMM2-CDG

(2013) M. Linssen et al.   MOLECULAR GENETICS AND METABOLISM

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

(2013) M. Mohamed et al.   NEUROLOGY

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

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

(2012) François Foulquier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The ever-expanding spectrum of congenital muscular dystrophies

(2012) Eugenio Mercuri et al.   ANNALS OF NEUROLOGY

DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

(2012) Rita Barone et al.   ANNALS OF NEUROLOGY

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)

(2012) Livia Kapusta et al.   HEART FAILURE REVIEWS

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

(2012) Sharita Timal et al.   HUMAN MOLECULAR GENETICS

Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome

(2012) Yoshiko Murakami et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene

(2012) Belén Pérez et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

A Novel Type of Macrothrombocytopenia Associated with a Defect in α2,3-Sialylation

(2011) Claire Jones et al.   AMERICAN JOURNAL OF PATHOLOGY

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

Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II

(2011) M. Guillard et al.   CLINICAL CHEMISTRY

Congenital disorders of glycosylation

(2011) Miranda Theodore et al.   CURRENT OPINION IN PEDIATRICS

Normal glycosylation screening does not rule out SRD5A3-CDG

(2011) Miski Mohamed et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Metabolic cutis laxa syndromes

(2011) Miski Mohamed et al.   JOURNAL OF INHERITED METABOLIC DISEASE

How to find and diagnose a CDG due to defective N-glycosylation

(2011) Dirk J. Lefeber et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Congenital disorders of glycosylation

(2010) Jaak Jaeken   Annals of the New York Academy of Sciences

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism

(2010) Eva Morava et al.   BRAIN

Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due toALG6gene mutations

(2010) JM Drijvers et al.   CLINICAL GENETICS

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

(2009) Dirk J. Lefeber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CDG nomenclature: Time for a change!

(2009) Jaak Jaeken et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

(2009) V. Hucthagowder et al.   HUMAN MOLECULAR GENETICS

RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation

(2009) J. Jaeken et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib

(2008) P. de Lonlay et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1

(2008) R. Zeevaert et al.   HUMAN MOLECULAR GENETICS