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Year | Number of Results |
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PubMed (OMIM) for id: 322026
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Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins.
Pediatr Res. 2005 Aug;58(2):248-53. doi: 10.1203/01.PDR.0000169963.94378.B6. Epub 2005 Jul 8.
Pediatr Res. 2005.
PMID: 16006436
An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).
Denecke J, Kranz C, Kemming D, Koch HG, Marquardt T.
Denecke J, et al.
Hum Mutat. 2004 May;23(5):477-86. doi: 10.1002/humu.20026.
Hum Mutat. 2004.
PMID: 15108280
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Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase.
Körner C, Knauer R, Stephani U, Marquardt T, Lehle L, von Figura K.
Körner C, et al.
EMBO J. 1999 Dec 1;18(23):6816-22. doi: 10.1093/emboj/18.23.6816.
EMBO J. 1999.
PMID: 10581255
Free PMC article.
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Carbohydrate-deficient glycoprotein syndrome--a fourth subtype.
Stibler H, Stephani U, Kutsch U.
Stibler H, et al.
Neuropediatrics. 1995 Oct;26(5):235-7. doi: 10.1055/s-2007-979762.
Neuropediatrics. 1995.
PMID: 8552211
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