Results 31 to 40 of about 1,755 (160)
Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency
JCRPE, 2022 INTRODUCTION: Phosphomannomutase 2 deficiency (PMM2-CDG) is a disorder of protein N-glycosylation with a wide clinical spectrum. Hypoglycemia is rarely reported in PMM2-CDG.
Doğuş Vurallı +7 more
doaj +1 more source
High‐Pressure Transformations and Stability of Ferromagnesite in the Earth's Mantle
Geophysical Monograph Series, Page 105-113., 2020 This book is Open Access. A digital copy can be downloaded for free from Wiley Online Library.
Explores the behavior of carbon in minerals, melts, and fluids under extreme conditions
Carbon trapped in diamonds and carbonate-bearing rocks in subduction zones are examples of the continuing exchange of substantial carbon ...
Eglantine Boulard +2 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2022 Background Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which often has a severe clinical presentation and life-limiting consequences.
C. Pascoal +13 more
doaj +1 more source
Renal involvement in PMM2-CDG, a mini-review [PDF]
Molecular Genetics and Metabolism, 2018 Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-linked glycosylation disorder. The majority of patients present with a multisystem phenotype, including central nervous system involvement, hepatopathy, gastrointestinal and cardiac symptoms, endocrine dysfunction and abnormal coagulation.
Altassan, Ruqaiah +7 more
openaire +2 more sources
Disease Models & Mechanisms, 2019 Phosphomannomutase 2 deficiency, or PMM2-CDG, is the most common congenital disorder of glycosylation and affects over 1000 patients globally. There are no approved drugs that treat the symptoms or root cause of PMM2-CDG.
Sangeetha Iyer +10 more
doaj +1 more source
Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin
Molecular Genetics and Metabolism Reports, 2020 Congenital Disorders of Glycosylation (CDG) are scarcely reported from Latin America. We here report on a Mexican mestizo with a multi-systemic syndrome including neurological involvement and a type I transferrin (Tf) isoelectric focusing (IEF) pattern ...
C.A. González-Domínguez +11 more
doaj +1 more source
Italian Journal of Pediatrics, 2022 Background Congenital Disorders of Glycosylation (CDG) are a large group of inborn errors of metabolism with more than 140 different CDG types reported to date (1).
E. Lebredonchel +6 more
doaj +1 more source
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
Frontiers in Endocrinology, 2023 Congenital hyperinsulinemia (CHI), is a clinically heterogeneous disorder that presents as a major cause of persistent and recurrent hypoglycemia during infancy and childhood. There are 16 subtypes of CHI-related genes.
Congli Chen, Yanmei Sang
doaj +1 more source
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