Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

CDG Therapies: From Bench to Bedside

(2018) Sandra Brasil et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II

(2017) Amal Al Teneiji et al.   MOLECULAR GENETICS AND METABOLISM

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

(2014) Marie-Lorraine Monin et al.   Orphanet Journal of Rare Diseases

Perinatal and early infantile symptoms in congenital disorders of glycosylation

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

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

(2011) Samira Achouitar et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia

(2008) Rita Barone et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia

(2008) J.B. Arnoux et al.   MOLECULAR GENETICS AND METABOLISM