Most plasma proteins, cell membrane proteins and other proteins are glycoproteins with
sugar chains attached to the polypeptide-glycans. Glycosylation is the main element of the …

Background Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of
neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia …

The frequency and importance of the evaluation of the posterior fossa have increased
significantly over the past 20 years owing to advances in neuroimaging. Nowadays …

Background Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is
a multisystem inborn error of metabolism. Objectives To better characterise the natural …

Cerebellar malformations are diverse congenital anomalies frequently associated with
developmental disability. Although genetic and prenatal non-genetic causes have been …

Objective Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation
[PMM2‐CDG]) causes cerebellar syndrome and strokelike episodes (SLEs). SLEs are also …

Cerebellar hypoplasia (CH) refers to a cerebellum with a reduced volume, and is a common,
but non‐specific neuroimaging finding. The etiological spectrum of CH is wide and includes …

Historically, the midbrain and hindbrain have been considered of secondary importance to
the cerebrum, which has typically been acknowledged as the most important part of the …

Pontocerebellar hypoplasias (PCH) represent a heterogeneous group of very rare disorders
with reduced volume of pons and cerebellum. The term is purely descriptive and does not …

Cerebellar hypoplasia (CH) refers to a cerebellum of reduced volume with preserved shape.
CH is associated with a broad heterogeneity in neuroradiologic features, etiologies, clinical …