PMM2-CDG and nephrotic syndrome: a case report. [PDF]
Clinical Case Reports, 2021 CDG are a group of diseases altering the glycosylation process. Enzymes involved have ubiquitous distribution with systemic involvement and high phenotypic variability. We report the case of a girl with central hypotonia, epilepsy and severe psychomotor delay diagnosed with phosphomannomutase 2 deficiency (PMM2-CDG) after presenting with nephrotic ...
Banderali, Giuseppe +3 more
openaire +5 more sources
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) [PDF]
The Cerebellum, 2021 AbstractWe aimed to identify clinical, molecular and radiological correlates of activities of daily living (ADL) in patients with cerebellar atrophy caused by PMM2 mutations (PMM2-CDG), the most frequent congenital disorder of glycosylation. Twenty-six PMM2-CDG patients (12 males; mean age 13 ± 11.1 years) underwent a standardized assessment to measure
Pettinato, Fabio +19 more
openaire +8 more sources
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
doaj +1 more source
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment [PDF]
Orphanet Journal of Rare Diseases, 2015 Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation
García-Cazorla, Angels +22 more
openaire +8 more sources
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
Pediatric Reports, 2022 Background: Hyperinsulinemic hypoglycemia (HH) is an important cause of persistent hypoglycemia in newborns and infants. Recently, PMM2 (phosphomannomutase 2) mutation has been associated with HH, especially in conjunction with polycystic kidney disease (
Ratna Acharya, Kiran Upadhyay
doaj +1 more source
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
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