Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation
Frontiers in Immunology, 2022 Congenital disorders of glycosylation (CDG) are inherited metabolic diseases characterized by mutations in enzymes involved in different steps of protein glycosylation, leading to aberrant synthesis, attachment or processing of glycans.
Paola de Haas +10 more
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A complement C4–derived glycopeptide is a biomarker for PMM2-CDG
JCI InsightBACKGROUND Diagnosis of PMM2-CDG, the most common congenital disorder of glycosylation (CDG), relies on measuring carbohydrate-deficient transferrin (CDT) and genetic testing. CDT tests have false negatives and may normalize with age.
Kishore Garapati +22 more
doaj +3 more sources
Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG
Molecular Genetics and Metabolism Reports, 2021 We report on a Mexican mestizo with a multisystemic syndrome including neurological involvement and a type I serum transferrin isoelectric focusing (Tf IEF) pattern.
C.A. González-Domínguez +16 more
doaj +1 more source
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
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
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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
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
Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG. [PDF]
Mol Genet MetabBackground: Growth faltering is prevalent in 96% of children with Phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG). Published long-term growth data is extremely limited.
Sarafoglou K +16 more
europepmc +2 more sources
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
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
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