In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report. [PDF]
Genes (Basel), 2020 Doroftei B +7 more
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Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis. [PDF]
Orphanet J Rare DisCirnigliaro L +10 more
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Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review. [PDF]
J Inherit Metab Dis, 2020 Makhamreh MM +4 more
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Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency. [PDF]
J Assist Reprod Genet, 2020 Peng T +11 more
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Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation. [PDF]
Mol Genet MetabBudhraja R +7 more
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Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway. [PDF]
Orphanet J Rare Dis, 2020 López-Gálvez R +10 more
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Characterisation of mammalian PHOSPHO1 : an enzyme involved in bone mineralisation? [PDF]
, 2007 Roberts, Scott John
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Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders. [PDF]
BMC Med Genet, 2019 Zhang Z, Huang TL, Ma J, He WJ, Gu H.
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O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder. [PDF]
Cell RepMatheny-Rabun C +10 more
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