Results 51 to 60 of about 2,410 (179)
Expanding the Spectrum of PMM2-CDG Phenotype [PDF]
, 2011 Congenital Disorders of Glycosylation (CDG) are a group of recently described inborn errors of metabolism affecting glycosylation. CDG are disorders that have been reported with a great variability in the clinical presentation, especially for the most common PMM2-CDG.
Sandrine, Vuillaumier-Barrot +5 more
openaire +2 more sources
Orphanet Journal of Rare Diseases, 2021 PMM2-CDG is the most prevalent congenital disorder of glycosylation (CDG) with only symptomatic therapy. Some CDG have been successfully treated with D-galactose. We performed an open-label pilot trial with D-galactose in 9 PMM2-CDG patients.
Peter Witters +7 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2020 Variants in Phosphomannomutase 2 (PMM2) lead to PMM2-CDG, the most frequent congenital disorder of glycosylation (CDG). We here describe the disease course of a ten-month old patient who presented with the classical PMM2-CDG symptoms as cerebellar ...
Marlen Görlacher +12 more
doaj +1 more source
PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India
Global Medical Genetics, 2023 Congenital disorder of glycosylation (CDG) is an autosomal recessively inherited disorder. Hypotonia, stroke-like episodes, and peripheral neuropathy are also associated with the condition that typically develops during infancy.
N. Sreedevi +4 more
doaj +1 more source
Analyse der Signaltransduktion während der frühen Embryogenese in einem Xenopus laevis- Modell zu ‚PMM2-CDG‘ [PDF]
, 2016 Angeborene Defekte der Proteinglykosylierung im Menschen führen zu ‚Congenital Disorder of Glycosylation’ (CDG), wobei die Erkrankung PMM2-CDG mit Abstand die häufigste Form der CDG darstellt.
Himmelreich, Nastassja
core +1 more source
Patient-reported outcomes and quality of life in PMM2-CDG
Molecular Genetics and Metabolism, 2022 Patient-reported outcomes (PROs) measure important aspects of disease burden, however they have received limited attention in the care of patients with Congenital Disorders of Glycosylation (CDG). We evaluated the PROs and correlation between clinical disease severity scoring and reported quality of life (QoL) in a PMM2-CDG patient cohort.
Anna N, Ligezka +10 more
openaire +3 more sources
Orphanet Journal of Rare Diseases, 2021 A recent report on long-term dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) claimed improved glycosylation and called for double-blind randomized study of the dietary supplement in PMM2-CDG patients.
Peter Witters +8 more
doaj +1 more source
Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective
Therapeutic Advances in Rare Disease, 2022 This article is written by the parent of a child living with PMM2 -congenital disorder of glycosylation (abbreviated to PMM2 -CDG). It provides a parental perspective of the journey taken from diagnosis to present day and details the effect of off-label ...
Konstantin Feinberg
doaj +1 more source
Çocuk Dergisi, 2023 Introduction: Congenital glycosylation defects (CDGs) manifest with multisystemic symptoms involving the immune, central nervous, endocrine, and musculoskeletal systems. A total of 137 distinct CDG types have been identified to date.
Sebile Kılavuz +9 more
doaj +1 more source
The FASEB Journal, 2013 Congenital Disorders of Glycosylation (CDGs) are rare diseases characterized by wide spectrum clinical abnormalities and impaired glycosylation. The most common CDG subtype, PMM2‐CDG, results from mutations in PMM2, which encodes the phosphomannomutase (pmm) enzyme that converts mannose‐6‐P (M6P) to mannose‐1‐P (M1P).
Richard Anthony Steet +4 more
openaire +1 more source