Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2022-05-10

AUTHORS

Martin Magner, Zsuzsanna Almássy, Zoran Gucev, Beata Kieć-Wilk, Vasilica Plaiasu, Anna Tylki-Szymańska, Dimitrios Zafeiriou, Ioannis Zaganas, Christina Lampe

ABSTRACT

BackgroundMucopolysaccharidosis IVA (MPS IVA), or Morquio A syndrome, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase. A progressive systemic skeletal chondrodysplasia, leading to significant morbidity and reduced life expectancy is the main clinical feature of this multisystemic disease. Although enzyme replacement therapy with elosulfase alfa is established in Europe, the rarity of disease and other factors still set hurdles in having patients treated in some countries. Aim of this statement is to provide evidence-based guidance for the enzyme replacement treatment of Morquio A patients, harmonizing recommendations from published guidelines with the real-life clinical practice in the Central and South-Eastern European region. ParticipantsThe Consensus Group, convened by 8 Steering Committee (SC) members from 7 Central and South-Eastern European countries, consisted of a multidisciplinary group of 17 experts in the management of MPS in Central and South-Eastern Europe. Consensus processThe SC met in a first virtual meeting with an external scientific coordinator, to discuss on clinical issues to be analyzed in guidance statements. Statements were developed by the scientific coordinator, evaluated by the SC members in a first modified-Delphi voting and adapted accordingly, to be submitted to the widest audience in the Consensus Conference. Following discussion and further modifications, all participants contributed to a second round of modified-Delphi voting.ResultsNine of ten statements, concerning general guidelines for management of MPS IVA patients and specific recommendations for treatment, received final consensus.ConclusionsEuropean guidelines and evidence-based recommendations for Morquio A patients should be considered in the real life of Central and South-Eastern European countries and adapted to unique clinical practice approaches and criteria for patients’ access to treatment and reimbursement in the region. More... »

PAGES

190

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s13023-022-02332-7

DOI

http://dx.doi.org/10.1186/s13023-022-02332-7

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1147769086

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/35538504


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Amino Acid Metabolism, Inborn Errors", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Consensus", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Enzyme Replacement Therapy", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Isovaleryl-CoA Dehydrogenase", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mucopolysaccharidoses", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mucopolysaccharidosis IV", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Department of Paediatrics and Inherited Metabolic Disorders, General University Hospital and First Faculty of Medicine, Charles University, KPDPM 1. LF UK a VFN v Praze, Ke Karlovu 2, 128 08, Prague, Czech Republic", 
          "id": "http://www.grid.ac/institutes/grid.4491.8", 
          "name": [
            "Department of Paediatrics and Inherited Metabolic Disorders, General University Hospital and First Faculty of Medicine, Charles University, KPDPM 1. LF UK a VFN v Praze, Ke Karlovu 2, 128 08, Prague, Czech Republic"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Magner", 
        "givenName": "Martin", 
        "id": "sg:person.01230021101.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230021101.39"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Toxicology and Metabolic Diseases, Heim Pal National Pediatric Institute, Budapest, Hungary", 
          "id": "http://www.grid.ac/institutes/grid.413987.0", 
          "name": [
            "Department of Toxicology and Metabolic Diseases, Heim Pal National Pediatric Institute, Budapest, Hungary"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Alm\u00e1ssy", 
        "givenName": "Zsuzsanna", 
        "id": "sg:person.0751342410.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0751342410.40"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Children\u2019s Hospital, Skopje, North Macedonia", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "University Children\u2019s Hospital, Skopje, North Macedonia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gucev", 
        "givenName": "Zoran", 
        "id": "sg:person.01313217546.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313217546.49"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Unit of Rare Metabolic Diseases, Department of Metabolic Diseases, Jagiellonian University Medical College, University Hospital, Krakow, Poland", 
          "id": "http://www.grid.ac/institutes/grid.5522.0", 
          "name": [
            "Unit of Rare Metabolic Diseases, Department of Metabolic Diseases, Jagiellonian University Medical College, University Hospital, Krakow, Poland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kie\u0107-Wilk", 
        "givenName": "Beata", 
        "id": "sg:person.01003371245.77", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01003371245.77"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Regional Centre of Medical Genetics, INSMC Alessandrescu-Rusescu, Bucharest, Romania", 
          "id": "http://www.grid.ac/institutes/grid.488698.3", 
          "name": [
            "Regional Centre of Medical Genetics, INSMC Alessandrescu-Rusescu, Bucharest, Romania"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Plaiasu", 
        "givenName": "Vasilica", 
        "id": "sg:person.0712260344.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0712260344.38"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pediatric Nutrition and Metabolic Diseases, The Children\u2019s Memorial Health Institute, Warsaw, Poland", 
          "id": "http://www.grid.ac/institutes/grid.413923.e", 
          "name": [
            "Department of Pediatric Nutrition and Metabolic Diseases, The Children\u2019s Memorial Health Institute, Warsaw, Poland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tylki-Szyma\u0144ska", 
        "givenName": "Anna", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "First Department of Pediatrics, Hippokratio General Hospital, Aristotle University, Thessaloniki, Greece", 
          "id": "http://www.grid.ac/institutes/grid.4793.9", 
          "name": [
            "First Department of Pediatrics, Hippokratio General Hospital, Aristotle University, Thessaloniki, Greece"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zafeiriou", 
        "givenName": "Dimitrios", 
        "id": "sg:person.014222356137.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014222356137.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Neurogenetics Laboratory, Neurology Department, University Hospital of Heraklion, University of Crete, Heraklion, Greece", 
          "id": "http://www.grid.ac/institutes/grid.412481.a", 
          "name": [
            "Neurogenetics Laboratory, Neurology Department, University Hospital of Heraklion, University of Crete, Heraklion, Greece"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zaganas", 
        "givenName": "Ioannis", 
        "id": "sg:person.0671511037.47", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0671511037.47"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Child Neurology, Epileptology and Social Pediatrics, Centre for Rare Diseases, University of Giessen, Giessen, Germany", 
          "id": "http://www.grid.ac/institutes/grid.8664.c", 
          "name": [
            "Department of Child Neurology, Epileptology and Social Pediatrics, Centre for Rare Diseases, University of Giessen, Giessen, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lampe", 
        "givenName": "Christina", 
        "id": "sg:person.01042715657.55", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01042715657.55"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1186/s13023-019-1074-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1117140026", 
          "https://doi.org/10.1186/s13023-019-1074-9"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13023-020-01545-y", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1131298963", 
          "https://doi.org/10.1186/s13023-020-01545-y"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13023-021-01675-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1134758054", 
          "https://doi.org/10.1186/s13023-021-01675-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13023-016-0503-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030831505", 
          "https://doi.org/10.1186/s13023-016-0503-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13023-022-02285-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1146509127", 
          "https://doi.org/10.1186/s13023-022-02285-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13023-017-0634-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085558889", 
          "https://doi.org/10.1186/s13023-017-0634-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/8904_2014_298", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041523150", 
          "https://doi.org/10.1007/8904_2014_298"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2022-05-10", 
    "datePublishedReg": "2022-05-10", 
    "description": "BackgroundMucopolysaccharidosis IVA (MPS IVA), or Morquio A syndrome, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase. A progressive systemic skeletal chondrodysplasia, leading to significant morbidity and reduced life expectancy is the main clinical feature of this multisystemic disease. Although enzyme replacement therapy with elosulfase alfa is established in Europe, the rarity of disease and other factors still set hurdles in having patients treated in some countries. Aim of this statement is to provide evidence-based guidance for the enzyme replacement treatment of Morquio A patients, harmonizing recommendations from published guidelines with the real-life clinical practice in the Central and South-Eastern European region.\nParticipantsThe Consensus Group, convened by 8 Steering Committee (SC) members from 7 Central and South-Eastern European countries, consisted of a multidisciplinary group of 17 experts in the management of MPS in Central and South-Eastern Europe.\nConsensus processThe SC met in a first virtual meeting with an external scientific coordinator, to discuss on clinical issues to be analyzed in guidance statements. Statements were developed by the scientific coordinator, evaluated by the SC members in a first modified-Delphi voting and adapted accordingly, to be submitted to the widest audience in the Consensus Conference. Following discussion and further modifications, all participants contributed to a second round of modified-Delphi voting.ResultsNine of ten statements, concerning general guidelines for management of MPS IVA patients and specific recommendations for treatment, received final consensus.ConclusionsEuropean guidelines and evidence-based recommendations for Morquio A patients should be considered in the real life of Central and South-Eastern European countries and adapted to unique clinical practice approaches and criteria for patients\u2019 access to treatment and reimbursement in the region.", 
    "genre": "article", 
    "id": "sg:pub.10.1186/s13023-022-02332-7", 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1036535", 
        "issn": [
          "1750-1172"
        ], 
        "name": "Orphanet Journal of Rare Diseases", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "17"
      }
    ], 
    "keywords": [
      "enzyme replacement therapy", 
      "Morquio A patients", 
      "A patients", 
      "replacement therapy", 
      "Delphi voting", 
      "real-life clinical practice", 
      "main clinical features", 
      "evidence-based recommendations", 
      "rarity of disease", 
      "enzyme replacement treatment", 
      "Morquio A syndrome", 
      "MPS IVA patients", 
      "evidence-based guidance", 
      "clinical practice approach", 
      "elosulfase alfa", 
      "significant morbidity", 
      "clinical features", 
      "replacement treatment", 
      "IVA patients", 
      "consensus statement", 
      "multisystemic disease", 
      "enzyme N-acetylgalactosamine", 
      "metabolic disorders", 
      "consensus conference", 
      "patients", 
      "clinical practice", 
      "lysosomal enzyme N-acetylgalactosamine", 
      "guidance statements", 
      "consensus group", 
      "clinical issues", 
      "Mucopolysaccharidosis IVA", 
      "multidisciplinary group", 
      "life expectancy", 
      "scientific coordinator", 
      "therapy", 
      "final consensus", 
      "steering committee members", 
      "treatment", 
      "disease", 
      "skeletal chondrodysplasia", 
      "IVA", 
      "guidelines", 
      "specific recommendations", 
      "European countries", 
      "N-acetylgalactosamine", 
      "second round", 
      "morbidity", 
      "ResultsNine", 
      "group", 
      "syndrome", 
      "alfa", 
      "recommendations", 
      "Central", 
      "disorders", 
      "management", 
      "reimbursement", 
      "rarity", 
      "virtual meetings", 
      "deficiency", 
      "expectancy", 
      "chondrodysplasia", 
      "participants", 
      "practice approach", 
      "South-Eastern European countries", 
      "coordinator", 
      "European regions", 
      "countries", 
      "factors", 
      "consensus", 
      "committee members", 
      "criteria", 
      "members", 
      "general guidelines", 
      "life", 
      "statements", 
      "further modification", 
      "guidance", 
      "meeting", 
      "practice", 
      "MPS", 
      "rounds", 
      "access", 
      "region", 
      "hurdles", 
      "real life", 
      "experts", 
      "features", 
      "SC", 
      "Europe", 
      "modification", 
      "South Eastern European region", 
      "conference", 
      "discussion", 
      "approach", 
      "issues", 
      "South-Eastern Europe", 
      "wider audience", 
      "SC members", 
      "audience", 
      "voting"
    ], 
    "name": "Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries", 
    "pagination": "190", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1147769086"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/s13023-022-02332-7"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "35538504"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/s13023-022-02332-7", 
      "https://app.dimensions.ai/details/publication/pub.1147769086"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-12-01T06:43", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20221201/entities/gbq_results/article/article_930.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1186/s13023-022-02332-7"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/s13023-022-02332-7'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s13023-022-02332-7'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s13023-022-02332-7'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s13023-022-02332-7'


 

This table displays all metadata directly associated to this object as RDF triples.

295 TRIPLES      21 PREDICATES      139 URIs      124 LITERALS      14 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/s13023-022-02332-7 schema:about N5a82ea4eb206487ea4bec2d1dbfecead
2 N9b0fae8f8b9b4c9591ebc8ccf90fa7a4
3 Na5dd8cf9330444908da3bcd53af42212
4 Nb8d89acd226b4bf89abee98381a13b6a
5 Nc4d3d2db972f49f2949b29472370e4fd
6 Nc4e9c913dbae41bb89d6765eb1aa0c8b
7 Nd651d9d98eca492485de9f8814ad6b7d
8 anzsrc-for:11
9 anzsrc-for:1103
10 schema:author N70556de2e12b40f39c5669b7a28269e0
11 schema:citation sg:pub.10.1007/8904_2014_298
12 sg:pub.10.1186/s13023-016-0503-2
13 sg:pub.10.1186/s13023-017-0634-0
14 sg:pub.10.1186/s13023-019-1074-9
15 sg:pub.10.1186/s13023-020-01545-y
16 sg:pub.10.1186/s13023-021-01675-x
17 sg:pub.10.1186/s13023-022-02285-x
18 schema:datePublished 2022-05-10
19 schema:datePublishedReg 2022-05-10
20 schema:description BackgroundMucopolysaccharidosis IVA (MPS IVA), or Morquio A syndrome, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase. A progressive systemic skeletal chondrodysplasia, leading to significant morbidity and reduced life expectancy is the main clinical feature of this multisystemic disease. Although enzyme replacement therapy with elosulfase alfa is established in Europe, the rarity of disease and other factors still set hurdles in having patients treated in some countries. Aim of this statement is to provide evidence-based guidance for the enzyme replacement treatment of Morquio A patients, harmonizing recommendations from published guidelines with the real-life clinical practice in the Central and South-Eastern European region. ParticipantsThe Consensus Group, convened by 8 Steering Committee (SC) members from 7 Central and South-Eastern European countries, consisted of a multidisciplinary group of 17 experts in the management of MPS in Central and South-Eastern Europe. Consensus processThe SC met in a first virtual meeting with an external scientific coordinator, to discuss on clinical issues to be analyzed in guidance statements. Statements were developed by the scientific coordinator, evaluated by the SC members in a first modified-Delphi voting and adapted accordingly, to be submitted to the widest audience in the Consensus Conference. Following discussion and further modifications, all participants contributed to a second round of modified-Delphi voting.ResultsNine of ten statements, concerning general guidelines for management of MPS IVA patients and specific recommendations for treatment, received final consensus.ConclusionsEuropean guidelines and evidence-based recommendations for Morquio A patients should be considered in the real life of Central and South-Eastern European countries and adapted to unique clinical practice approaches and criteria for patients’ access to treatment and reimbursement in the region.
21 schema:genre article
22 schema:isAccessibleForFree true
23 schema:isPartOf N0f89335a280e4007aa6bf75fa5dc4c41
24 N847f32f44fb74fe6a7c3ee2c8ea9b4cb
25 sg:journal.1036535
26 schema:keywords A patients
27 Central
28 Delphi voting
29 Europe
30 European countries
31 European regions
32 IVA
33 IVA patients
34 MPS
35 MPS IVA patients
36 Morquio A patients
37 Morquio A syndrome
38 Mucopolysaccharidosis IVA
39 N-acetylgalactosamine
40 ResultsNine
41 SC
42 SC members
43 South Eastern European region
44 South-Eastern Europe
45 South-Eastern European countries
46 access
47 alfa
48 approach
49 audience
50 chondrodysplasia
51 clinical features
52 clinical issues
53 clinical practice
54 clinical practice approach
55 committee members
56 conference
57 consensus
58 consensus conference
59 consensus group
60 consensus statement
61 coordinator
62 countries
63 criteria
64 deficiency
65 discussion
66 disease
67 disorders
68 elosulfase alfa
69 enzyme N-acetylgalactosamine
70 enzyme replacement therapy
71 enzyme replacement treatment
72 evidence-based guidance
73 evidence-based recommendations
74 expectancy
75 experts
76 factors
77 features
78 final consensus
79 further modification
80 general guidelines
81 group
82 guidance
83 guidance statements
84 guidelines
85 hurdles
86 issues
87 life
88 life expectancy
89 lysosomal enzyme N-acetylgalactosamine
90 main clinical features
91 management
92 meeting
93 members
94 metabolic disorders
95 modification
96 morbidity
97 multidisciplinary group
98 multisystemic disease
99 participants
100 patients
101 practice
102 practice approach
103 rarity
104 rarity of disease
105 real life
106 real-life clinical practice
107 recommendations
108 region
109 reimbursement
110 replacement therapy
111 replacement treatment
112 rounds
113 scientific coordinator
114 second round
115 significant morbidity
116 skeletal chondrodysplasia
117 specific recommendations
118 statements
119 steering committee members
120 syndrome
121 therapy
122 treatment
123 virtual meetings
124 voting
125 wider audience
126 schema:name Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries
127 schema:pagination 190
128 schema:productId N04edd057d2984ac69a55343468cddb65
129 N25bd68c705ae4154ade1456904f414ba
130 Nb00a13bb779348b9b55f13ce4ebe06e6
131 schema:sameAs https://app.dimensions.ai/details/publication/pub.1147769086
132 https://doi.org/10.1186/s13023-022-02332-7
133 schema:sdDatePublished 2022-12-01T06:43
134 schema:sdLicense https://scigraph.springernature.com/explorer/license/
135 schema:sdPublisher Nb9a0fb7f9bc349a2a04746d9bba759f9
136 schema:url https://doi.org/10.1186/s13023-022-02332-7
137 sgo:license sg:explorer/license/
138 sgo:sdDataset articles
139 rdf:type schema:ScholarlyArticle
140 N04edd057d2984ac69a55343468cddb65 schema:name pubmed_id
141 schema:value 35538504
142 rdf:type schema:PropertyValue
143 N0f89335a280e4007aa6bf75fa5dc4c41 schema:volumeNumber 17
144 rdf:type schema:PublicationVolume
145 N25bd68c705ae4154ade1456904f414ba schema:name dimensions_id
146 schema:value pub.1147769086
147 rdf:type schema:PropertyValue
148 N4b7e36fb465d4cf8bbd805715b739db7 schema:affiliation grid-institutes:grid.413923.e
149 schema:familyName Tylki-Szymańska
150 schema:givenName Anna
151 rdf:type schema:Person
152 N5a82ea4eb206487ea4bec2d1dbfecead schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
153 schema:name Isovaleryl-CoA Dehydrogenase
154 rdf:type schema:DefinedTerm
155 N5e416f7ed89c4a1da018c9f3068cf2db rdf:first sg:person.0751342410.40
156 rdf:rest Nb8fce367b96949a1b08bc9e064c85d92
157 N6f494dff19e746549f8ad524f55da680 rdf:first sg:person.01042715657.55
158 rdf:rest rdf:nil
159 N70556de2e12b40f39c5669b7a28269e0 rdf:first sg:person.01230021101.39
160 rdf:rest N5e416f7ed89c4a1da018c9f3068cf2db
161 N72e23579fc874777a553494ca2ba3a4c rdf:first sg:person.0671511037.47
162 rdf:rest N6f494dff19e746549f8ad524f55da680
163 N73356b626f7942c687a0e5cb82fc0eac rdf:first sg:person.01003371245.77
164 rdf:rest N8900a285938d4b11831524c2078bc7db
165 N793b7c33fb104b71af8633d6c387696d rdf:first sg:person.014222356137.00
166 rdf:rest N72e23579fc874777a553494ca2ba3a4c
167 N847f32f44fb74fe6a7c3ee2c8ea9b4cb schema:issueNumber 1
168 rdf:type schema:PublicationIssue
169 N8900a285938d4b11831524c2078bc7db rdf:first sg:person.0712260344.38
170 rdf:rest Nb25419cd1a574266b36b9e19d12914f6
171 N9b0fae8f8b9b4c9591ebc8ccf90fa7a4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
172 schema:name Amino Acid Metabolism, Inborn Errors
173 rdf:type schema:DefinedTerm
174 Na5dd8cf9330444908da3bcd53af42212 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
175 schema:name Consensus
176 rdf:type schema:DefinedTerm
177 Nb00a13bb779348b9b55f13ce4ebe06e6 schema:name doi
178 schema:value 10.1186/s13023-022-02332-7
179 rdf:type schema:PropertyValue
180 Nb25419cd1a574266b36b9e19d12914f6 rdf:first N4b7e36fb465d4cf8bbd805715b739db7
181 rdf:rest N793b7c33fb104b71af8633d6c387696d
182 Nb8d89acd226b4bf89abee98381a13b6a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
183 schema:name Mucopolysaccharidoses
184 rdf:type schema:DefinedTerm
185 Nb8fce367b96949a1b08bc9e064c85d92 rdf:first sg:person.01313217546.49
186 rdf:rest N73356b626f7942c687a0e5cb82fc0eac
187 Nb9a0fb7f9bc349a2a04746d9bba759f9 schema:name Springer Nature - SN SciGraph project
188 rdf:type schema:Organization
189 Nc4d3d2db972f49f2949b29472370e4fd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
190 schema:name Enzyme Replacement Therapy
191 rdf:type schema:DefinedTerm
192 Nc4e9c913dbae41bb89d6765eb1aa0c8b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
193 schema:name Humans
194 rdf:type schema:DefinedTerm
195 Nd651d9d98eca492485de9f8814ad6b7d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
196 schema:name Mucopolysaccharidosis IV
197 rdf:type schema:DefinedTerm
198 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
199 schema:name Medical and Health Sciences
200 rdf:type schema:DefinedTerm
201 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
202 schema:name Clinical Sciences
203 rdf:type schema:DefinedTerm
204 sg:journal.1036535 schema:issn 1750-1172
205 schema:name Orphanet Journal of Rare Diseases
206 schema:publisher Springer Nature
207 rdf:type schema:Periodical
208 sg:person.01003371245.77 schema:affiliation grid-institutes:grid.5522.0
209 schema:familyName Kieć-Wilk
210 schema:givenName Beata
211 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01003371245.77
212 rdf:type schema:Person
213 sg:person.01042715657.55 schema:affiliation grid-institutes:grid.8664.c
214 schema:familyName Lampe
215 schema:givenName Christina
216 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01042715657.55
217 rdf:type schema:Person
218 sg:person.01230021101.39 schema:affiliation grid-institutes:grid.4491.8
219 schema:familyName Magner
220 schema:givenName Martin
221 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230021101.39
222 rdf:type schema:Person
223 sg:person.01313217546.49 schema:affiliation grid-institutes:None
224 schema:familyName Gucev
225 schema:givenName Zoran
226 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313217546.49
227 rdf:type schema:Person
228 sg:person.014222356137.00 schema:affiliation grid-institutes:grid.4793.9
229 schema:familyName Zafeiriou
230 schema:givenName Dimitrios
231 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014222356137.00
232 rdf:type schema:Person
233 sg:person.0671511037.47 schema:affiliation grid-institutes:grid.412481.a
234 schema:familyName Zaganas
235 schema:givenName Ioannis
236 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0671511037.47
237 rdf:type schema:Person
238 sg:person.0712260344.38 schema:affiliation grid-institutes:grid.488698.3
239 schema:familyName Plaiasu
240 schema:givenName Vasilica
241 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0712260344.38
242 rdf:type schema:Person
243 sg:person.0751342410.40 schema:affiliation grid-institutes:grid.413987.0
244 schema:familyName Almássy
245 schema:givenName Zsuzsanna
246 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0751342410.40
247 rdf:type schema:Person
248 sg:pub.10.1007/8904_2014_298 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041523150
249 https://doi.org/10.1007/8904_2014_298
250 rdf:type schema:CreativeWork
251 sg:pub.10.1186/s13023-016-0503-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030831505
252 https://doi.org/10.1186/s13023-016-0503-2
253 rdf:type schema:CreativeWork
254 sg:pub.10.1186/s13023-017-0634-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085558889
255 https://doi.org/10.1186/s13023-017-0634-0
256 rdf:type schema:CreativeWork
257 sg:pub.10.1186/s13023-019-1074-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1117140026
258 https://doi.org/10.1186/s13023-019-1074-9
259 rdf:type schema:CreativeWork
260 sg:pub.10.1186/s13023-020-01545-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1131298963
261 https://doi.org/10.1186/s13023-020-01545-y
262 rdf:type schema:CreativeWork
263 sg:pub.10.1186/s13023-021-01675-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1134758054
264 https://doi.org/10.1186/s13023-021-01675-x
265 rdf:type schema:CreativeWork
266 sg:pub.10.1186/s13023-022-02285-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1146509127
267 https://doi.org/10.1186/s13023-022-02285-x
268 rdf:type schema:CreativeWork
269 grid-institutes:None schema:alternateName University Children’s Hospital, Skopje, North Macedonia
270 schema:name University Children’s Hospital, Skopje, North Macedonia
271 rdf:type schema:Organization
272 grid-institutes:grid.412481.a schema:alternateName Neurogenetics Laboratory, Neurology Department, University Hospital of Heraklion, University of Crete, Heraklion, Greece
273 schema:name Neurogenetics Laboratory, Neurology Department, University Hospital of Heraklion, University of Crete, Heraklion, Greece
274 rdf:type schema:Organization
275 grid-institutes:grid.413923.e schema:alternateName Department of Pediatric Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland
276 schema:name Department of Pediatric Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland
277 rdf:type schema:Organization
278 grid-institutes:grid.413987.0 schema:alternateName Department of Toxicology and Metabolic Diseases, Heim Pal National Pediatric Institute, Budapest, Hungary
279 schema:name Department of Toxicology and Metabolic Diseases, Heim Pal National Pediatric Institute, Budapest, Hungary
280 rdf:type schema:Organization
281 grid-institutes:grid.4491.8 schema:alternateName Department of Paediatrics and Inherited Metabolic Disorders, General University Hospital and First Faculty of Medicine, Charles University, KPDPM 1. LF UK a VFN v Praze, Ke Karlovu 2, 128 08, Prague, Czech Republic
282 schema:name Department of Paediatrics and Inherited Metabolic Disorders, General University Hospital and First Faculty of Medicine, Charles University, KPDPM 1. LF UK a VFN v Praze, Ke Karlovu 2, 128 08, Prague, Czech Republic
283 rdf:type schema:Organization
284 grid-institutes:grid.4793.9 schema:alternateName First Department of Pediatrics, Hippokratio General Hospital, Aristotle University, Thessaloniki, Greece
285 schema:name First Department of Pediatrics, Hippokratio General Hospital, Aristotle University, Thessaloniki, Greece
286 rdf:type schema:Organization
287 grid-institutes:grid.488698.3 schema:alternateName Regional Centre of Medical Genetics, INSMC Alessandrescu-Rusescu, Bucharest, Romania
288 schema:name Regional Centre of Medical Genetics, INSMC Alessandrescu-Rusescu, Bucharest, Romania
289 rdf:type schema:Organization
290 grid-institutes:grid.5522.0 schema:alternateName Unit of Rare Metabolic Diseases, Department of Metabolic Diseases, Jagiellonian University Medical College, University Hospital, Krakow, Poland
291 schema:name Unit of Rare Metabolic Diseases, Department of Metabolic Diseases, Jagiellonian University Medical College, University Hospital, Krakow, Poland
292 rdf:type schema:Organization
293 grid-institutes:grid.8664.c schema:alternateName Department of Child Neurology, Epileptology and Social Pediatrics, Centre for Rare Diseases, University of Giessen, Giessen, Germany
294 schema:name Department of Child Neurology, Epileptology and Social Pediatrics, Centre for Rare Diseases, University of Giessen, Giessen, Germany
295 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...