Associated Papers
A new case of Rafiq syndrome with coexisting thyroid dyshormonogenesis type 6 in a Chinese patient: case report and literature review.
Qi R et al.
Frontiers in Endocrinology, 2025
Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles.
Okamoto N et al.
Cells, 2021
Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).
Kemme L et al.
Jimd Reports, 2021
Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis.
Lefebvre C et al.
Plos Medicine, 2016
28027327 (PubMed )
Supplement: pmed.1002201.s012.xlsx › mutations
ERManI (Endoplasmic Reticulum Class I α-Mannosidase) Is Required for HIV-1 Envelope Glycoprotein Degradation via Endoplasmic Reticulum-associated Protein Degradation Pathway.
Zhou T et al.
The Journal of Biological Chemistry, 2015
MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.
Hoffjan S et al.
Molecular Syndromology, 2015
Genetics of recessive cognitive disorders.
Musante L et al.
Trends in Genetics : Tig, 2014
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
Rafiq MA et al.
American Journal of Human Genetics, 2011
A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases.
Iskafi R et al.
Journal of Investigative Medicine High Impact Case Reports, 0
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