Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)

Congenital disorders of glycosylation (CDG): Quo vadis?

(2017) Romain Péanne et al.   European Journal of Medical Genetics

Oral D-galactose supplementation in PGM1-CDG

(2017) Sunnie Yan-Wai Wong et al.   GENETICS IN MEDICINE

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

(2017) Julien H Park et al.   GENETICS IN MEDICINE

Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects

(2017) Willy Morelle et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

(2017) Víctor de Diego et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature

(2017) D. Marques-da-Silva et al.   JOURNAL OF INHERITED METABOLIC DISEASE

What is new in CDG?

(2017) Jaak Jaeken et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

(2017) Manuel Schiff et al.   JOURNAL OF MEDICAL GENETICS

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

(2016) Jos C. Jansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

(2016) Jos C. Jansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CADmutations and uridine-responsive epileptic encephalopathy

(2016) Johannes Koch et al.   BRAIN

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders

(2016) Lisa G. Riley et al.   JOURNAL OF INHERITED METABOLIC DISEASE

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

(2016) Eric J. R. Jansen et al.   Nature Communications

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

(2015) Julien H. Park et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach

(2015) K. Dörre et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Congenital disorders of glycosylation: new defects and still counting

(2014) Kyle Scott et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

(2014) Eva Morava   MOLECULAR GENETICS AND METABOLISM

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

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

(2013) Hirofumi Kodera et al.   HUMAN MUTATION

MAN1B1 Deficiency: An Unexpected CDG-II

(2013) Daisy Rymen et al.   PLoS Genetics

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

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

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

(2012) Rita Barone et al.   ANNALS OF NEUROLOGY

Congenital disorders of glycosylation

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

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

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

CDG nomenclature: Time for a change!

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

Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients

(2009) Hudson H. Freeze   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

The ketogenic diet for the treatment of childhood epilepsy: a randomised controlled trial

(2008) Elizabeth G Neal et al.   LANCET NEUROLOGY

Development of liver disease despite mannose treatment in two patients with CDG-Ib

(2007) K. Mention et al.   MOLECULAR GENETICS AND METABOLISM