(Q28260709)

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Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins

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scholarly article

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Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins (English)

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congenital disorder

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based on heuristic

inferred from title

congenital disorder

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based on heuristic

inferred from title

congenital disorder of glycosylation

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based on heuristic

inferred from title

author name string

Jonas Denecke

1

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Christian Kranz

2

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Juergen Ch von Kleist-Retzow

3

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Kristin Bosse

4

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Peter Herkenrath

5

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Otfried Debus

6

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Erik Harms

7

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Thorsten Marquardt

8

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language of work or name

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publication date

August 2005

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Pediatric Research

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58

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2

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248-53

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Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS.

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Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen.

1 reference

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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

1 reference

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Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

1 reference

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21 January 2018

Carbohydrate-deficient glycoprotein syndrome--a fourth subtype

1 reference

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21 January 2018

Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

1 reference

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Cloning and characterization of the ALG3 gene of Saccharomyces cerevisiae

1 reference

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Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

1 reference

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21 January 2018

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

1 reference

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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)

1 reference

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

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Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

1 reference

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Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

1 reference

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Congenital disorder of glycosylation (CDG) type Ie. A new patient

1 reference

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Iron transport across cell membranes: molecular understanding of duodenal and placental iron uptake

1 reference

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Stage- and tissue-specific expression of a beta-1,4-galactosyltransferase in the embryonic epidermis

1 reference

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Expression of beta1,4-galactosyltransferase in the development of mouse brain

1 reference

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GlcNAc-transferase V and core 2 GlcNAc-transferase expression in the developing mouse embryo

1 reference

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Functional properties of the carbohydrate moiety of human transferrin

1 reference

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21 January 2018

Identifiers

10.1203/01.PDR.0000169963.94378.B6

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