Results 1 to 10 of about 15,514 (222)

Macular Hypoplasia in Congenital Disorder of Glycosylation Type Ia [PDF]

Case Reports in Ophthalmology, 2012
Congenital disorders of glycosylation are a rare group of metabolic disorders that can result in multiorgan disease. This article describes a novel finding of macular hypoplasia in congenital disorders of glycosylation type Ia.
Bob Z. Wang, Pradeep Siriwardana, Deepa Taranath   +2 more
doaj   +5 more sources

Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia [PDF]

Molecular Genetics and Metabolism Reports
Background: Mannose phosphate isomerase deficiency-congenital glycosylation disorders (MPI-CDG) is a rare autosomal recessive disorder caused by pathogenic variants in the MPI gene and characterized by digestive, hepatic, and endocrine-related symptoms ...
Cheng Luo, Danxia Peng, Yanyan Li, Shuping Liu, Qiong Wu, Xuan Xu, Jie Wen   +6 more
doaj   +2 more sources

Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective [PDF]

Therapeutic Advances in Rare Disease, 2022
This article is written by the parent of a child living with PMM2 -congenital disorder of glycosylation (abbreviated to PMM2 -CDG). It provides a parental perspective of the journey taken from diagnosis to present day and details the effect of off-label ...
Konstantin Feinberg
doaj   +2 more sources

Epileptic Spasms in Congenital Disorders of Glycosylation [PDF]

Epileptic Disorders, 2017
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and ...
Bahi-Buisson, N, Barnerias, C, Boddaert, N, de Lonlay, P, Eisermann, M, Kaminska, A, Nabbout, R, Pereira, AG   +7 more
core   +4 more sources

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes [PDF]

Frontiers in Endocrinology
Congenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism caused by impaired protein glycosylation. Among these, PMM2-CDG, caused by defective phosphomannomutase 2 activity and affecting protein N-glycosylation,
Giulia Del Medico, Lorenzo Ferri, Elena Procopio, Giosuè Annibalini, Elena Barbieri, Elena Barbieri, Rita Barone, Rita Barone, Renzo Guerrini, Renzo Guerrini, Amelia Morrone, Amelia Morrone, Stefano Stagi, Stefano Stagi   +13 more
doaj   +2 more sources

The long way to diagnosis: attention disorder, alcohol addiction or congenital disorder of glycosylation? A case report [PDF]

BMC Psychiatry
Attention deficit hyperactivity disorder (ADHD) is a relatively common disorder in clinical psychiatry. Patients often suffer from symptoms long before the diagnosis due to an overlap with other psychiatric differential diagnosis.
Timo Jendrik Faustmann, Lukas Hensel, Armin Bahic, Yoshinao Wada, Marianne Grüneberg, Thorsten Marquardt, Daniel Kamp, Leonhard Schilbach   +7 more
doaj   +2 more sources

PIGN c.776T>C (p.Phe259Ser) variant present in trans with a pathogenic variant for PIGN-congenital disorder of glycosylation: Bella-Noah syndrome [PDF]

Heliyon
Glycosylation is the most common protein and lipid post-translational modification in humans. Congenital disorders of glycosylation (CDG) are characterized by both genetic and clinical heterogeneity, presenting multisystemic manifestations, and in most ...
Lyvia Neves Rebello Alves, Lívia Valle dos Santos Silveira, Raquel Silva dos Reis Trabach, Débora Dummer Meira, Eldamária de Vargas Wolfgramm dos Santos, Iúri Drumond Louro   +5 more
doaj   +2 more sources

Protein losing enteropathy due to congenital disorder of glycosylation: A case report [PDF]

SAGE Open Medical Case Reports
Protein-Losing Enteropathy (PLE) is the loss of protein through the gastrointestinal tract, subsequently leading to low levels of protein in the serum. The differential diagnosis for PLE is broad, and treatment is based on identifying and appropriately ...
Joanna Odenthal MD, Henry C. Lin MD, Kimberly Trieschmann MD   +2 more
doaj   +2 more sources

Novel insight into FCSK‐congenital disorder of glycosylation through a CRISPR‐generated cell model [PDF]

Molecular Genetics & Genomic Medicine
Background FCSK‐congenital disorder of glycosylation (FCSK‐CDG) is a recently discovered rare autosomal recessive genetic disorder with defective fucosylation due to mutations in the fucokinase encoding gene, FCSK.
Maryam Fazelzadeh Haghighi, Hossein Jafari Khamirani, Jafar Fallahi, Ali Arabi Monfared, Korosh Ashrafi Dehkordi, Seyed Mohammad Bagher Tabei   +5 more
doaj   +2 more sources

Congenital disorders of glycosylation [PDF]

Annals of Translational Medicine, 2018
Congenital disorders of glycosylation are a genetically and clinically heterogeneous group of >130 diseases caused by defects in various steps along glycan modification pathways. The vast majority of these monogenic diseases are autosomal recessive and have multi-systemic manifestations, mainly growth failure, developmental delay, facial dysmorphisms ...
Irene J, Chang, Miao, He, Christina T, Lam   +2 more
openaire   +4 more sources