Congenital disorders of glycosylation and intellectual disability

Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

(2011) Sevjidmaa Baasanjav 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

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum

(2011) Denise Horn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Congenital dyserythropoietic anemias

(2011) Achille Iolascon et al.   CURRENT OPINION IN HEMATOLOGY

Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literature

(2011) EMILY C LISI et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Normal glycosylation screening does not rule out SRD5A3-CDG

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

G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction

(2011) B. Hayee et al.   GLYCOBIOLOGY

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

(2011) Jaak Jaeken   JOURNAL OF INHERITED METABOLIC DISEASE

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I

(2011) Mailys Guillard et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Metabolic cutis laxa syndromes

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

From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases

(2011) Vincent Cantagrel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

(2011) G. Maydan et al.   JOURNAL OF MEDICAL GENETICS

Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)

(2011) Bradley S. Miller et al.   MOLECULAR GENETICS AND METABOLISM

Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

(2010) Yun Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling

(2010) Jing Tian et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

(2010) T. Dupre et al.   JOURNAL OF MEDICAL GENETICS

Bone Densitometry in Children and Adolescents

(2010)   PEDIATRICS

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

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)

(2009) Stephanie Grünewald   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The skeletal manifestations of the congenital disorders of glycosylation

(2009) D Coman et al.   CLINICAL GENETICS

Revised Pediatric Reference Data for the Lateral Distal Femur Measured by Hologic Discovery/Delphi Dual-Energy X-Ray Absorptiometry

(2009) Babette S. Zemel et al.   JOURNAL OF CLINICAL DENSITOMETRY

Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih

(2009) Torsten Stölting et al.   MOLECULAR GENETICS AND METABOLISM

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

(2009) Klaus Schwarz et al.   NATURE GENETICS

Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study

(2009) E. Mercuri et al.   NEUROLOGY

Failure to Thrive: When to Suspect Inborn Errors of Metabolism

(2009) C. Ficicioglu et al.   PEDIATRICS

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

Peters’-plus syndrome is a congenital disorder of glycosylation caused by a defect in the β1,3-glucosyltransferase that modifies thrombospondin type 1 repeats

(2008) Taisto Y. K. Heinonen et al.   ANNALS OF MEDICINE

Increased brain lactate during stroke-like episode in a patient with congenital disorder of glycosylation type Ia

(2008) Andreas van Baalen et al.   BRAIN & DEVELOPMENT

Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations

(2008) B. Pérez-Dueñas et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

On the nomenclature of congenital disorders of glycosylation (CDG)

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

Dissociation Profile of Protonated Fucosyl Glycopeptides and Quantitation of Fucosylation Levels of Glycoproteins by Mass Spectrometry

(2008) Michiko Tajiri et al.   JOURNAL OF PROTEOME RESEARCH

Genetic Evaluation of Intellectual Disabilities

(2008) John B. Moeschler   Seminars in Pediatric Neurology

Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation

(2007) Renate Zeevaert et al.   MOLECULAR GENETICS AND METABOLISM