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Human disorders in N-glycosylation and animal models
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12417423
retrieved
31 July 2017
review article
1 reference
stated in
Europe PubMed Central
title
Human disorders in N-glycosylation and animal models
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12417423
retrieved
31 July 2017
main subject
glycosylation
1 reference
based on heuristic
inferred from title
author
Hudson H. Freeze
object named as
Hudson H Freeze
series ordinal
1
0 references
language of work or name
English
0 references
publication date
1 December 2002
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12417423
retrieved
31 July 2017
published in
Biochimica et Biophysica Acta
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12417423
retrieved
31 July 2017
volume
1573
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12417423
retrieved
31 July 2017
issue
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12417423
retrieved
31 July 2017
page(s)
388-393
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12417423
retrieved
31 July 2017
cites work
Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways
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Modifier genes convert "simple" Mendelian disorders to complex traits
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7 January 2021
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Congenital disorders of glycosylation: the rapidly growing tip of the iceberg
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
Congenital disorders involving defective N-glycosylation of proteins
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Crossref
reference URL
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7 January 2021
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The pathology of N-glycosylation--stay the middle, avoid the risks
1 reference
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reference URL
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7 January 2021
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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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7 January 2021
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Balancing N-linked glycosylation to avoid disease
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reference URL
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7 January 2021
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Ultrasensitive profiling and sequencing of N-linked oligosaccharides using standard DNA-sequencing equipment.
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Diagnosis of the carbohydrate-deficient glycoprotein syndrome by analysis of transferrin in filter paper blood spots
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reference URL
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7 January 2021
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Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis
1 reference
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
1 reference
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Crossref
reference URL
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7 January 2021
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Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
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Congenital disorders of glycosylation
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
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inferred from DOI database lookup
Glycans and the modulation of neural-recognition molecule function.
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inferred from DOI database lookup
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy
1 reference
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reference URL
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7 January 2021
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inferred from DOI database lookup
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome
1 reference
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7 January 2021
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inferred from DOI database lookup
Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
1 reference
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
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inferred from DOI database lookup
A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
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inferred from DOI database lookup
The dolichol pathway of N-linked glycosylation
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https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
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Congenital disorders of glycosylation: genetic model systems lead the way.
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
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Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study
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reference URL
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7 January 2021
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Glycosylation mutants of animal cells
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Crossref
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7 January 2021
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Expression cloning of a novel suppressor of the Lec15 and Lec35 glycosylation mutations of Chinese hamster ovary cells
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7 January 2021
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Requirement of the Lec35 gene for all known classes of monosaccharide-P-dolichol-dependent glycosyltransferase reactions in mammals
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
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Diversity of congenital disorders of glycosylation
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
1 reference
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).
1 reference
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
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inferred from DOI database lookup
The action of molecular chaperones in the early secretory pathway
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reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
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inferred from DOI database lookup
Molecular chaperones in the yeast endoplasmic reticulum maintain the solubility of proteins for retrotranslocation and degradation
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Isolation of the ALG6 locus of Saccharomyces cerevisiae required for glucosylation in the N-linked glycosylation pathway
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
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The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
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Conformational disease
1 reference
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https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
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Calnexin family members as modulators of genetic diseases
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
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Smoking and chronic obstructive pulmonary disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Increased serum levels of carbohydrate-deficient transferrin in patients with chronic obstructive pulmonary disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Increased serum concentrations of carbohydrate-deficient transferrin (CDT) in patients with cystic fibrosis
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
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Carbohydrate-deficient glycoprotein syndrome: beyond the screen
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
A recessive deletion in the GlcNAc-1-phosphotransferase gene results in peri-implantation embryonic lethality
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
The remodeling of glycoconjugates in mice
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular diversity of heparan sulfate
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-4165%2802%2900408-7
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7 January 2021
based on heuristic
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Identifiers
DOI
10.1016/S0304-4165(02)00408-7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12417423
retrieved
31 July 2017
PubMed publication ID
12417423
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12417423
retrieved
31 July 2017
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