Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency (Q33778381)

29 July 2017

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title

Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency (English)

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29 July 2017

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J C Michalski

1

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29 July 2017

A Klein

series ordinal

2

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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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Biochimica et Biophysica Acta

29 July 2017

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29 July 2017

1455

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29 July 2017

2-3

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29 July 2017

69-84

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A GENERALISED STORAGE DISORDER RESEMBLING HURLER'S SYNDROME

29 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Spectrum of mutations in alpha-mannosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Interleukin 2 is a lectin that associates its receptor with the T-cell receptor complex

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Mannosidosis: A clinical and histopathologic study

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Mammalian alpha-mannosidases--multiple forms but a common purpose?

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Role of alpha-D-mannosidases in the biosynthesis and catabolism of glycoproteins

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

In vitro hydrolysis of oligomannosyl oligosaccharides by the lysosomal alpha-D-mannosidases.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Glycosidases of the asparagine-linked oligosaccharide processing pathway

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Novel alpha-D-mannosidase of rat sperm plasma membranes: characterization and potential role in sperm-egg interactions

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Updating the sequence-based classification of glycosyl hydrolases

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Purification and comparison of the structures of human liver acidic alpha-D-mannosidases A and B.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Characterization of human liver alpha-D-mannosidase purified by affinity chromatography

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Synthesis of lysosomal alpha-mannosidase in normal and mannosidosis fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Cloning, expression, purification, and characterization of the human broad specificity lysosomal acid alpha-mannosidase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Human lysosomal alpha-mannosidase: isolation and nucleotide sequence of the full-length cDNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

The core-specific lysosomal alpha(1-6)-mannosidase activity depends on aspartamidohydrolase activity

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

A human lysosomal alpha(1----6)-mannosidase active on the branched trimannosyl core of complex glycans

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Correction of human mucolipidosis II enzyme abnormalities in somatic cell hybrids

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Regional assignment of five genes on human chromosome 19

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Genomic structure of the human lysosomal alpha-mannosidase gene (MANB).

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Mannosidosis: isolation of oligosaccharide storage material from brain.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Characterization of two mannose-containing oligosaccharides isolated from the urine of patients with mannosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Chemistry of urinary mannosides excreted in mannosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

A 500 MHz 1H NMR study of urinary oligosaccharides from patients with mannosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Heterogeneity of urinary oligosaccharides from mannosidosis: mass spectrometric analysis of permethylated Man9, Man8, and Man7 derivatives

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Structural studies of urinary oligosaccharides from patients with mannosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

'Glyco-deglyco' processes during the synthesis of N-glycoproteins

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Degradation of proteins within the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Reversal of fortune for nascent proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Lectins as chaperones in glycoprotein folding

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Oligosaccharide binding characteristics of the molecular chaperones calnexin and calreticulin

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Release of oligomannoside-type glycans as a marker of the degradation of newly synthesized glycoproteins

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Cytosolic deglycosylation process of newly synthesized glycoproteins generates oligomannosides possessing one GlcNAc residue at the reducing end.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Transfer of free polymannose-type oligosaccharides from the cytosol to lysosomes in cultured human hepatocellular carcinoma HepG2 cells

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Cytosol-to-lysosome transport of free polymannose-type oligosaccharides. Kinetic and specificity studies using rat liver lysosomes

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Catabolism of glycoprotein glycans. Characterization of a lysosomal endo-N-acetyl-beta-D-glucosaminidase specific for glycans with a terminal chitobiose residue

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Substrate specificity of rat liver cytosolic alpha-d-mannosidase Novel degradative pathway for oligomannosidic type glycans

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Substrate specificity of human liver neutral alpha-mannosidase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Deficiency of α-mannosidase in Angus cattle. An inherited lysosomal storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Biochemical studies on a case of feline mannosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Mannosidosis in Aberdeen Angus cattle in Britain

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Mannosidosis in aborted and stillborn Galloway calves

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Purification of bovine lysosomal alpha-mannosidase, characterization of its gene and determination of two mutations that cause alpha-mannosidosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

The accumulation of oligosaccharides in tissues and body fluids of cats with alpha-mannosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Structural analysis of the major urinary oligosaccharides in feline alpha-mannosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

The storage products in genetic and swainsonine-induced human mannosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Mannosidosis in Angus cattle. The enzymic defect

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Mannosidosis: patterns of storage and urinary excretion of oligosaccharides in the bovine model

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Absence of endo-beta-N-acetylglucosaminidase activity in the kidneys of sheep, cattle and pig.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Beta-mannosidosis: prenatal biochemical and morphological characteristics

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Properties and prenatal ontogeny of beta-D-mannosidase in selected goat tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Bovine beta-mannosidase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Human beta-mannosidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Beta-mannosidosis in two brothers with hearing loss

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Human beta-mannosidase deficiency associated with peripheral neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Beta-mannosidosis and ethanolaminuria in a female patient

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

[Beta mannosidosis: a new case]

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Human β-mannosidosis: a 3-year-old boy with speech impairment and emotional instability

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

β‐Mannosidase deficiency in a female infant with epileptic encephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Dysmyelinogenesis in caprine beta-mannosidosis: ultrastructural and morphometric studies in fetal optic nerve.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

beta-D-Mannosidase from human placenta: properties and partial purification

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Bovine kidney beta-mannosidase: purification and characterization

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

A study of the heterogenous structure of guinea pig lysosomal beta-mannosidase using a polyclonal antibody.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Molecular Cloning and Characterization of Bovine β-Mannosidase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Oligosaccharides accumulated in the kidney of a goat with beta-mannosidosis: mass spectrometry of intact permethylated derivatives

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Structural analysis of the major caprine beta-mannosidosis urinary oligosaccharides

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Oligosaccharides accumulated in the bovineβ-mannosidosis kidney

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Accumulation of mannosyl-beta(1----4)-N-acetylglucosamine in fibroblasts and leukocytes of patients with a deficiency of beta-mannosidase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Determination of sequence and linkage of tissue oligosaccharides in caprine ?-mannosidosis by fast atom bombardment, collisionally activated dissociation tandem mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Biochemical and morphological expression of early prenatal caprine beta-mannosidosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Fucosidosis revisited: a review of 77 patients

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Mammalian alpha-L-fucosidases.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Analysis of purified human liver alpha-L-fucosidase by western-blotting with lectins and polyclonal and monoclonal antibodies

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Gene order and localization of enzyme loci on the short arm of chromosome 1.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Chromosome 1 localization of the human alpha-L-fucosidase structural gene with a homologous site on chromosome 2

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Structure and sequence of the human α-l-fucosidase gene and pseudogene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Molecular cloning of a cDNA for human alpha-L-fucosidase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Human alpha-L-fucosidase: complete coding sequence from cDNA clones

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Linkage of plasma alpha-L-fucosidase (FUCA2) and the plasminogen (PLG) system

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Mutations in fucosidosis gene: a review

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Fucosidosis: genetic and biochemical analysis of eight cases

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Spectrum of mutations in fucosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

A Gln-281 to Arg substitution in alpha-L-fucosidase is responsible for a common polymorphism detected by isoelectric focusing

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Oligosaccharide storage in brains from patients with fucosidosis, GM1-gangliosidosis and GM2-gangliosidosis (Sandhoff's disease)

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Urinary oligosaccharides of fucosidosis. Evidence of the occurrence of X-antigenic determinant in serum-type sugar chains of glycoproteins

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Structure of the three major fucosyl-glycoasparagines accumulating in the urine of a patient with fucosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Characterization and 400-MHz 1H-NMR analysis of urinary fucosyl glycoasparagines in fucosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Influence of L-fucose attached alpha 1-->6 to the asparagine-linked N-acetylglucosamine on the hydrolysis of the N-glycosidic linkage by human glycosylasparaginase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Characterization of the specificities of human blood group H gene-specified alpha 1,2-L-fucosyltransferase toward sulfated/sialylated/fucosylated acceptors: evidence for an inverse relationship between alpha 1,2-L-fucosylation of Gal and alpha 1,6-L

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Molecular genetics of H, Se, Lewis and other fucosyltransferase genes

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Bone marrow transplantation in canine mucopolysaccharidosis I. Effects within the central nervous system

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Canine fucosidosis: a model for retroviral gene transfer into haematopoietic stem cells

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Correction of alpha-L-fucosidase deficiency in fucosidosis fibroblasts by retroviral vector-mediated gene transfer

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Lysosomal alpha-N-acetylgalactosaminidase deficiency: a new inherited metabolic disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Localization of a gene for human α-galactosidase B (=N-Acetyl-α-D-Galactosaminidase) on chromosome 22

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Structural organization and complete sequence of the human α-N-acetylgalactosaminidase gene: Homology with the α-galactosidase A gene provides evidence for evolution from a common ancestral gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900077-0

7 January 2021

10.1016/S0925-4439(99)00077-0

Identifiers

DOI

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release_wexilrrnzbfb5frixexwkj7vma

29 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wexilrrnzbfb5frixexwkj7vma

24 November 2022

mapped directly with Wikidata item

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