Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!

In This Issue

(2010)   CELL

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip

(2010) N. Rind et al.   HUMAN MOLECULAR GENETICS

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

(2010) J. Lubbehusen et al.   HUMAN MOLECULAR GENETICS

Leukocyte Adhesion Deficiency Type II: Long-Term Follow-Up and Review of the Literature

(2010) Yael Gazit et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

(2010) Peter M Krawitz et al.   NATURE GENETICS

Inherited glycosylphosphatidyl inositol deficiency: A treatable CDG

(2009) Antonio Almeida et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa

(2009) Mailys Guillard et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

CDG nomenclature: Time for a change!

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

A new mutation in COG7 extends the spectrum of COG subunit deficiencies

(2009) Renate Zeevaert et al.   European Journal of Medical Genetics

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation

(2009) P. Paesold-Burda et al.   HUMAN MOLECULAR GENETICS

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

(2009) Ellen Reynders et al.   HUMAN MOLECULAR GENETICS

RFT1 deficiency in three novel CDG patients

(2009) Wendy Vleugels et al.   HUMAN MUTATION

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in theSEC23Bgene

(2009) Paola Bianchi et al.   HUMAN MUTATION

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

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

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II

(2009) Klaus Schwarz et al.   NATURE GENETICS

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

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

Human RFT1 Deficiency Leads to a Disorder of N-Linked Glycosylation

(2008) Micha A. Haeuptle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family

(2008) L. Al-Gazali et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): Where are we now?

(2008) Jonas Denecke et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

COG defects, birth and rise!

(2008) François Foulquier   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF 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

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

(2008) Kimia Kahrizi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

On the nomenclature of congenital disorders of glycosylation (CDG)

(2008) J. Jaeken et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type

(2008) L. Van Maldergem et al.   NEUROLOGY