Phosphomannomutase 2 (PMM2‐CDG) is the most common congenital disorder of N‐glycosylation
and is caused by a deficient PMM2 activity. The clinical presentation and the onset …

Mannose phosphate isomerase‐congenital disorder of glycosylation (MPI‐CDG) deficiency
is a rare subtype of congenital disorders of protein N‐glycosylation. It is characterised by …

… Ruqaiah Altassan and Silvia Radenkovic equally contributed in this work. … Ruqaiah Altassan
designed the work, collected the literature in a shred folder for the teams, coordinated the …

Phosphoglucomutase 1 (PGM1) encodes the metabolic enzyme that interconverts glucose-6-P
and glucose-1-P. Mutations in PGM1 cause impairment in glycogen metabolism and …

Purpose PMM2-CDG is the most common congenital disorder of glycosylation (CDG), which
presents with either a neurologic or multisystem phenotype. Little is known about the …

Background Transaldolase deficiency (TALDO‐D) is a rare autosomal recessive inborn error
of the pentose phosphate pathway. Since its first description in 2001, several case reports …

Congenital disorders of glycosylation (CDG) are rare diseases with variable phenotypes and
severity. Immunological involvement remains a largely uncharted topic in CDG, mainly due …

… Author links open overlay panel Bijina Balakrishnan 1 # , Ruqaiah Altassan 2 # , Rohit
Budhraja 3 , Willisa Liou 4 , Arielle Lupo 1 , Sarah Bryant 1 , Anastasiya Mankouski 5 , Silvia …

Hereditary sensory autonomic neuropathy type IV (HSAN‐IV) is a rare autosomal recessive
disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to …

Purpose In the absence of prospective data on neurological symptoms, disease outcome, or
guidelines for system specific management in phosphomannomutase 2-congenital …