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
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
N-Glycosylation of Serum IgG and Total Glycoproteins in MAN1B1 Deficiency.
Saldova R et al.
Journal of Proteome Research, 2015
26401844 (PubMed )
Supplement: pr5b00709_si_002.pdf
MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.
Hoffjan S et al.
Molecular Syndromology, 2015
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Van Scherpenzeel M et al.
Brain : a Journal of Neurology, 2014
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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