A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-05-30

AUTHORS

Ayşe Kartal, Kürşad Aydın

ABSTRACT

Galactosialidosis is an autosamal reressive lysosomal storage disease caused by a combined deficiency of lysosomal β-galactosidase and neuraminidase, due to a primary defect in protective protein/cathepsin A. Three subtypes are recognized: the early infantile type, the late infantile type, and the juvenile/adult type. We report here a female patient with early infantile galactosialidosis who was born at 35 weeks of gestation. After birth she remained at the neonatal intensive care unit. Physical examination revealed, coarse facial features, hepatomegaly, cardiac murmur and diffuse hypotonia. The patient’s mother had a past history of fetal hydrops history. The diagnosis of galactosialidosis was confirmed by decreased activity of β-galactosidase and undetectable neuraminidase activity in fibroblasts. Genetic examination revealed a new homozygous mutation (c.1284delG) in the CTSA gene. More... »

PAGES

973-975

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s11011-017-0042-0

DOI

http://dx.doi.org/10.1007/s11011-017-0042-0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1085710591

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28555253


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"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1109", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Neurosciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cathepsin A", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infant", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Lysosomal Storage Diseases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Turkey", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Division of Child Neurology, Sel\u00e7uk University Faculty of Medicine, Alaeddin Kampus\u00fc, Sel\u00e7uklu, Konya, T\u00fcrkiye", 
          "id": "http://www.grid.ac/institutes/grid.17242.32", 
          "name": [
            "Division of Child Neurology, Sel\u00e7uk University Faculty of Medicine, Alaeddin Kampus\u00fc, Sel\u00e7uklu, Konya, T\u00fcrkiye"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kartal", 
        "givenName": "Ay\u015fe", 
        "id": "sg:person.011135512104.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011135512104.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Division of Child Neurology, Gazi University Faculty of Medicine, Ankara, Turkey", 
          "id": "http://www.grid.ac/institutes/grid.25769.3f", 
          "name": [
            "Division of Child Neurology, Gazi University Faculty of Medicine, Ankara, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ayd\u0131n", 
        "givenName": "K\u00fcr\u015fad", 
        "id": "sg:person.0725105011.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0725105011.18"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1186/1750-1172-8-114", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005810505", 
          "https://doi.org/10.1186/1750-1172-8-114"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00441499", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025668532", 
          "https://doi.org/10.1007/bf00441499"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s100380070027", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052758835", 
          "https://doi.org/10.1007/s100380070027"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2017-05-30", 
    "datePublishedReg": "2017-05-30", 
    "description": "Galactosialidosis is an autosamal reressive lysosomal storage disease caused by a combined deficiency of lysosomal \u03b2-galactosidase and neuraminidase, due to a primary defect in protective protein/cathepsin A. Three subtypes are recognized: the early infantile type, the late infantile type, and the juvenile/adult type. We report here a female patient with early infantile galactosialidosis who was born at 35\u00a0weeks of gestation. After birth she remained at the neonatal intensive care unit. Physical examination revealed, coarse facial features, hepatomegaly, cardiac murmur and diffuse hypotonia. The patient\u2019s mother had a past history of fetal hydrops history. The diagnosis of galactosialidosis was confirmed by decreased activity of \u03b2-galactosidase and undetectable neuraminidase activity in fibroblasts. Genetic examination revealed a new homozygous mutation (c.1284delG) in the CTSA gene.", 
    "genre": "article", 
    "id": "sg:pub.10.1007/s11011-017-0042-0", 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1096554", 
        "issn": [
          "0885-7490", 
          "1573-7365"
        ], 
        "name": "Metabolic Brain Disease", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "4", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "32"
      }
    ], 
    "keywords": [
      "new homozygous mutation", 
      "infantile type", 
      "neonatal intensive care unit", 
      "early infantile galactosialidosis", 
      "homozygous mutation", 
      "intensive care unit", 
      "weeks of gestation", 
      "coarse facial features", 
      "late infantile type", 
      "CTSA gene", 
      "female patients", 
      "care unit", 
      "physical examination", 
      "diffuse hypotonia", 
      "cardiac murmur", 
      "lysosomal storage disease", 
      "patient's mother", 
      "adult type", 
      "genetic examination", 
      "past history", 
      "storage disease", 
      "neuraminidase activity", 
      "decreased activity", 
      "primary defect", 
      "lysosomal \u03b2-galactosidase", 
      "galactosialidosis", 
      "mothers", 
      "examination", 
      "hepatomegaly", 
      "patients", 
      "gestation", 
      "\u03b2-galactosidase", 
      "murmur", 
      "hypotonia", 
      "subtypes", 
      "mutations", 
      "disease", 
      "diagnosis", 
      "facial features", 
      "weeks", 
      "birth", 
      "history", 
      "neuraminidase", 
      "activity", 
      "genes", 
      "deficiency", 
      "fibroblasts", 
      "types", 
      "cases", 
      "defects", 
      "units", 
      "features", 
      "Turkish case"
    ], 
    "name": "A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene", 
    "pagination": "973-975", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1085710591"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s11011-017-0042-0"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "28555253"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s11011-017-0042-0", 
      "https://app.dimensions.ai/details/publication/pub.1085710591"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-12-01T06:35", 
    "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_731.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1007/s11011-017-0042-0"
  }
]
 

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.10.1007/s11011-017-0042-0'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s11011-017-0042-0'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s11011-017-0042-0'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s11011-017-0042-0'


 

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

168 TRIPLES      21 PREDICATES      89 URIs      77 LITERALS      14 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s11011-017-0042-0 schema:about N02749879649347f1b08a3e9f8cf96be4
2 N3893894b44c44f2d98bd8038bef5ab58
3 N3ce13b6edcae46038a8294b597f330cf
4 N63ff214064b4481eab78b8c335869123
5 N6685d4dce8d44a5db4e8f37908c1643b
6 N766a0304e8d94e1fa0a07957f8ae7ebe
7 Nfa44fb2c94004fa38fd126990ef21198
8 anzsrc-for:11
9 anzsrc-for:1103
10 anzsrc-for:1109
11 schema:author N09709cbdee8944fea10b848b3766bd1a
12 schema:citation sg:pub.10.1007/bf00441499
13 sg:pub.10.1007/s100380070027
14 sg:pub.10.1186/1750-1172-8-114
15 schema:datePublished 2017-05-30
16 schema:datePublishedReg 2017-05-30
17 schema:description Galactosialidosis is an autosamal reressive lysosomal storage disease caused by a combined deficiency of lysosomal β-galactosidase and neuraminidase, due to a primary defect in protective protein/cathepsin A. Three subtypes are recognized: the early infantile type, the late infantile type, and the juvenile/adult type. We report here a female patient with early infantile galactosialidosis who was born at 35 weeks of gestation. After birth she remained at the neonatal intensive care unit. Physical examination revealed, coarse facial features, hepatomegaly, cardiac murmur and diffuse hypotonia. The patient’s mother had a past history of fetal hydrops history. The diagnosis of galactosialidosis was confirmed by decreased activity of β-galactosidase and undetectable neuraminidase activity in fibroblasts. Genetic examination revealed a new homozygous mutation (c.1284delG) in the CTSA gene.
18 schema:genre article
19 schema:isAccessibleForFree false
20 schema:isPartOf N7d7329a6ed434697bd1ac482c4462e70
21 N9d08b31d8e6e40f2a395cd2123f8eb4a
22 sg:journal.1096554
23 schema:keywords CTSA gene
24 Turkish case
25 activity
26 adult type
27 birth
28 cardiac murmur
29 care unit
30 cases
31 coarse facial features
32 decreased activity
33 defects
34 deficiency
35 diagnosis
36 diffuse hypotonia
37 disease
38 early infantile galactosialidosis
39 examination
40 facial features
41 features
42 female patients
43 fibroblasts
44 galactosialidosis
45 genes
46 genetic examination
47 gestation
48 hepatomegaly
49 history
50 homozygous mutation
51 hypotonia
52 infantile type
53 intensive care unit
54 late infantile type
55 lysosomal storage disease
56 lysosomal β-galactosidase
57 mothers
58 murmur
59 mutations
60 neonatal intensive care unit
61 neuraminidase
62 neuraminidase activity
63 new homozygous mutation
64 past history
65 patient's mother
66 patients
67 physical examination
68 primary defect
69 storage disease
70 subtypes
71 types
72 units
73 weeks
74 weeks of gestation
75 β-galactosidase
76 schema:name A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene
77 schema:pagination 973-975
78 schema:productId N55a88048254a49968be98af0aa6a9703
79 Nd26d03d2b4be4855b46057195b79319c
80 Ne05e49e8146145a7bd9c3dc023dbbff4
81 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085710591
82 https://doi.org/10.1007/s11011-017-0042-0
83 schema:sdDatePublished 2022-12-01T06:35
84 schema:sdLicense https://scigraph.springernature.com/explorer/license/
85 schema:sdPublisher N8f595791a43a44ecbdb43de9be578906
86 schema:url https://doi.org/10.1007/s11011-017-0042-0
87 sgo:license sg:explorer/license/
88 sgo:sdDataset articles
89 rdf:type schema:ScholarlyArticle
90 N02749879649347f1b08a3e9f8cf96be4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
91 schema:name Cathepsin A
92 rdf:type schema:DefinedTerm
93 N09709cbdee8944fea10b848b3766bd1a rdf:first sg:person.011135512104.00
94 rdf:rest Nc7f470f6ee544a65b372979c2bfbc47f
95 N3893894b44c44f2d98bd8038bef5ab58 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
96 schema:name Mutation
97 rdf:type schema:DefinedTerm
98 N3ce13b6edcae46038a8294b597f330cf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
99 schema:name Humans
100 rdf:type schema:DefinedTerm
101 N55a88048254a49968be98af0aa6a9703 schema:name dimensions_id
102 schema:value pub.1085710591
103 rdf:type schema:PropertyValue
104 N63ff214064b4481eab78b8c335869123 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
105 schema:name Infant
106 rdf:type schema:DefinedTerm
107 N6685d4dce8d44a5db4e8f37908c1643b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
108 schema:name Female
109 rdf:type schema:DefinedTerm
110 N766a0304e8d94e1fa0a07957f8ae7ebe schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
111 schema:name Lysosomal Storage Diseases
112 rdf:type schema:DefinedTerm
113 N7d7329a6ed434697bd1ac482c4462e70 schema:volumeNumber 32
114 rdf:type schema:PublicationVolume
115 N8f595791a43a44ecbdb43de9be578906 schema:name Springer Nature - SN SciGraph project
116 rdf:type schema:Organization
117 N9d08b31d8e6e40f2a395cd2123f8eb4a schema:issueNumber 4
118 rdf:type schema:PublicationIssue
119 Nc7f470f6ee544a65b372979c2bfbc47f rdf:first sg:person.0725105011.18
120 rdf:rest rdf:nil
121 Nd26d03d2b4be4855b46057195b79319c schema:name pubmed_id
122 schema:value 28555253
123 rdf:type schema:PropertyValue
124 Ne05e49e8146145a7bd9c3dc023dbbff4 schema:name doi
125 schema:value 10.1007/s11011-017-0042-0
126 rdf:type schema:PropertyValue
127 Nfa44fb2c94004fa38fd126990ef21198 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
128 schema:name Turkey
129 rdf:type schema:DefinedTerm
130 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
131 schema:name Medical and Health Sciences
132 rdf:type schema:DefinedTerm
133 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
134 schema:name Clinical Sciences
135 rdf:type schema:DefinedTerm
136 anzsrc-for:1109 schema:inDefinedTermSet anzsrc-for:
137 schema:name Neurosciences
138 rdf:type schema:DefinedTerm
139 sg:journal.1096554 schema:issn 0885-7490
140 1573-7365
141 schema:name Metabolic Brain Disease
142 schema:publisher Springer Nature
143 rdf:type schema:Periodical
144 sg:person.011135512104.00 schema:affiliation grid-institutes:grid.17242.32
145 schema:familyName Kartal
146 schema:givenName Ayşe
147 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011135512104.00
148 rdf:type schema:Person
149 sg:person.0725105011.18 schema:affiliation grid-institutes:grid.25769.3f
150 schema:familyName Aydın
151 schema:givenName Kürşad
152 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0725105011.18
153 rdf:type schema:Person
154 sg:pub.10.1007/bf00441499 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025668532
155 https://doi.org/10.1007/bf00441499
156 rdf:type schema:CreativeWork
157 sg:pub.10.1007/s100380070027 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052758835
158 https://doi.org/10.1007/s100380070027
159 rdf:type schema:CreativeWork
160 sg:pub.10.1186/1750-1172-8-114 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005810505
161 https://doi.org/10.1186/1750-1172-8-114
162 rdf:type schema:CreativeWork
163 grid-institutes:grid.17242.32 schema:alternateName Division of Child Neurology, Selçuk University Faculty of Medicine, Alaeddin Kampusü, Selçuklu, Konya, Türkiye
164 schema:name Division of Child Neurology, Selçuk University Faculty of Medicine, Alaeddin Kampusü, Selçuklu, Konya, Türkiye
165 rdf:type schema:Organization
166 grid-institutes:grid.25769.3f schema:alternateName Division of Child Neurology, Gazi University Faculty of Medicine, Ankara, Turkey
167 schema:name Division of Child Neurology, Gazi University Faculty of Medicine, Ankara, Turkey
168 rdf:type schema:Organization
 




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


...