Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency). (Q33778392)

29 July 2017

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title

Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency). (English)

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29 July 2017

H Carchon

1

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29 July 2017

E Van Schaftingen

series ordinal

2

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29 July 2017

G Matthijs

series ordinal

3

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29 July 2017

J Jaeken

series ordinal

4

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29 July 2017

language of work or name

English

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publication date

1 October 1999

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29 July 2017

11

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Biochimica et Biophysica Acta

inferred from page(s)

published in

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29 July 2017

1455

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29 July 2017

2-3

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29 July 2017

155-165

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Assembly of asparagine-linked oligosaccharides

29 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Structures and functions of the sugar chains of glycoproteins

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

1 reference

7 January 2021

Biological roles of oligosaccharides: all of the theories are correct

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

The carbohydrate-deficient glycoprotein syndrome: an experiment of nature in glycosylation

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Carbohydrate-deficient glycoprotein syndrome: hidden treasures

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https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

The carbohydrate-deficient glycoprotein syndromes: an overview

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Carbohydrate-deficient glycoconjugate (CDG) syndromes: a new chapter of neuropaediatrics

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Inherited disorders of glycoprotein synthesis: cell biological insights

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https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Diseases of abnormal protein glycosylation: an emerging area

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type 1 over a period of 14 years

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https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Early manifestations of the carbohydrate-deficient glycoprotein syndrome.

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https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate‐deficient glycoprotein syndrome

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https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay

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https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Carbohydrate-deficient glycoprotein syndrome: electrophoretic study of multiple serum glycoproteins

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type I

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Hemostatic studies in patients with carbohydrate-deficient glycoprotein syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Decreased blood coagulation activities in carbohydrate-deficient glycoprotein syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Carbohydrate-deficient glycoprotein syndrome in a girl with hypogonadism due to inactive follicle stimulating hormone

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Microheterogeneity of serum glycoproteins and their liver precursors in patients with carbohydrate-deficient glycoprotein syndrome type I: apparent deficiencies in clusterin and serum amyloid P

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency

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https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Aberrant expressions of decorin and biglycan genes in the carbohydrate-deficient glycoprotein syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Immunoglobulin levels in patients with carbohydrate-deficient glycoprotein syndrome type I

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

The structure of the asialo-carbohydrate units of human serotransferrin as proven by 360 MHz proton magnetic resonance spectroscopy

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Primary structure of two sialylated triantennary glycans from human serotransferrin

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https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

The structural heterogeneity of the carbohydrate moiety of desialylated human transferrin

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

N-glycosylation site mapping of human serotransferrin by serial lectin affinity chromatography, fast atom bombardment-mass spectrometry, and 1H nuclear magnetic resonance spectroscopy

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Adaptation of transferrin protein and glycan synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Electrospray ionization-mass spectrometric analysis of serum transferrin isoforms in patients with carbohydrate-deficient glycoprotein syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Analysis of mono- and oligosaccharide isomers derivatized with 9-aminopyrene-1,4,6-trisulfonate by capillary electrophoresis with laser-induced fluorescence

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Identification and fractionation of human milk oligosaccharides by proton-nuclear magnetic resonance spectroscopy and reverse-phase high-performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Enzymes Involved in the Synthesis of Mannose-6-phosphate from Glucose Are Normal in Carbohydrate Deficient Glycoprotein Syndrome Fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Major defect of carbohydrate-deficient-glycoprotein syndrome is not found in the synthesis of dolichyl phosphate or N-acetylglucosaminyl-pyrophosphoryl-dolichol

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Normal N-oligosaccharyltransferase activity in fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Abnormal metabolism of mannose in families with carbohydrate-deficient glycoprotein syndrome type 1.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Isolation of the human phosphomannomutase gene (PMM1) and assignment to chromosome 22q13.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Cloning and characterization of human phosphomannomutase, a mammalian homologue of yeast SEC53.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Evidence for Genetic Heterogeneity in the Carbohydrate-Deficient Glycoprotein Syndrome Type I (CDG1)

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Diagnosis of the carbohydrate-deficient glycoprotein syndrome by analysis of transferrin in filter paper blood spots

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Serum lysosomal enzyme abnormalities in galactosaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

The biology of transferrin

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Clinical Significance of Abnormal Heterogeneity of Transferrin in Relation to Alcohol Consumption

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Carbohydrate deficient transferrin measurement.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Prenatal diagnosis in CDG1 families: beware of heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900073-3

7 January 2021

10.1016/S0925-4439(99)00073-3

Identifiers

DOI

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29 July 2017

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