Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2117
Abstract: Congenital disorders of glycosylation (CDG) are a group of heterogeneous disorders caused by abnormal lipid or protein glycosylation. Variants in the FCSK gene have been reported to cause CDG. Defective FCSK‐induced CDG (FCSK–CDG) has only… read more here.
Keywords: disorder glycosylation; congenital disorder; fcsk; fcsk gene ... See more keywords
Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2017.04.037
Abstract: Fil: Rossi, Malco Damian. Fundacion para la Lucha contra las Enfermedades Neurologicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Cientificas y Tecnicas; Argentina read more here.
Keywords: phosphomannomutase gene; gene congenital; congenital disorder; disorder glycosylation ... See more keywords
Providing Palliative Care in Rare Pediatric Diseases: A Case Series of Three Children with Congenital Disorder of Glycosylation.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Palliative Medicine"
DOI: 10.1089/jpm.2016.0232
Abstract: Abstract Pediatric palliative care providers often care for children with rare, poorly understood diseases. In addition to grappling with a life-limiting diagnosis, families face complexity in decision making stemming from the prognostic uncertainty surrounding their… read more here.
Keywords: three children; congenital disorder; disorder glycosylation; case ... See more keywords
Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Thrombosis and Haemostasis"
DOI: 10.1111/jth.14559
Abstract: Congenital disorders of glycosylation are rare inherited diseases affecting many different proteins. The lack of glycosylation notably affects the hemostatic system and leads to deficiencies of both procoagulant and anticoagulant factors. read more here.
Keywords: congenital disorder; glycosylation; thrombin generation; elevated thrombin ... See more keywords
P476 Sirenomelia (Mermaid Syndrome) – A rare congenital disorder
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-epa.812
Abstract: Background Sirenomelia or mermaid syndrome is an extremely rare congenital disorder involving the lower spine and lower limbs. Although usually fatal in the newborn period, survival in a handful of cases beyond infancy have been… read more here.
Keywords: sirenomelia mermaid; congenital disorder; mermaid syndrome; rare congenital ... See more keywords
Novel mutation causing congenital disorder of glycosylation in a child with recurrent anasarca
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DOI: 10.1136/bcr-2021-245884
Abstract: Protein-losing enteropathy entails an excessive loss of proteins in intestinal tract due to underlying primary or secondary pathologies. It is suspected in patients with chronic diarrhoea and peripheral oedema. Faecal alpha 1 antitrypsin clearance is… read more here.
Keywords: novel mutation; mutation causing; congenital disorder; glycosylation child ... See more keywords
Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24087449
Abstract: The congenital disorder of glycosylation type IIs (ATP6AP1-CDG; OMIM# 300972) is a rare X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins. Here, we examine the… read more here.
Keywords: congenital disorder; patient; transplantation; glycosylation ... See more keywords