Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review.
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| Title: | Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review. |
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| Authors: | Sheth J; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India. jayesh.sheth@frige.co.in., Shah S; Royal Institute of Child Neurosciences, Vastrapur, Ahmedabad, India., Datar C; Bharati Hospital and Research Centre, Dhankawadi, Pune, India.; KEM Hospital, Rasta Peth, Pune, India., Bhatt K; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India., Raval P; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India., Nair A; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India., Jain D; Shishu Child Development and Early Intervention Centre, Ahmedabad, India., Shah J; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India., Sheth F; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India., Sheth H; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India. |
| Source: | BMC pediatrics [BMC Pediatr] 2023 Mar 24; Vol. 23 (1), pp. 133. Date of Electronic Publication: 2023 Mar 24. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 36959582 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Sheth+J%22">Sheth J</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India. jayesh.sheth@frige.co.in.<br /><searchLink fieldCode="AU" term="%22Shah+S%22">Shah S</searchLink>; Royal Institute of Child Neurosciences, Vastrapur, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Datar+C%22">Datar C</searchLink>; Bharati Hospital and Research Centre, Dhankawadi, Pune, India.; KEM Hospital, Rasta Peth, Pune, India.<br /><searchLink fieldCode="AU" term="%22Bhatt+K%22">Bhatt K</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Raval+P%22">Raval P</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Nair+A%22">Nair A</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Jain+D%22">Jain D</searchLink>; Shishu Child Development and Early Intervention Centre, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Shah+J%22">Shah J</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Sheth+F%22">Sheth F</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Sheth+H%22">Sheth H</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22100967804%22">BMC pediatrics</searchLink> [BMC Pediatr] 2023 Mar 24; Vol. 23 (1), pp. 133. <i>Date of Electronic Publication: </i>2023 Mar 24. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100967804 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2431 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712431%22">14712431 </searchLink><i>NLM ISO Abbreviation: </i>BMC Pediatr <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36959582 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s12887-023-03955-w Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 133 Titles: – TitleFull: Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Sheth J – PersonEntity: Name: NameFull: Shah S – PersonEntity: Name: NameFull: Datar C – PersonEntity: Name: NameFull: Bhatt K – PersonEntity: Name: NameFull: Raval P – PersonEntity: Name: NameFull: Nair A – PersonEntity: Name: NameFull: Jain D – PersonEntity: Name: NameFull: Shah J – PersonEntity: Name: NameFull: Sheth F – PersonEntity: Name: NameFull: Sheth H IsPartOfRelationships: – BibEntity: Dates: – D: 24 M: 03 Text: 2023 Mar 24 Type: published Y: 2023 Identifiers: – Type: issn-electronic Value: 1471-2431 Numbering: – Type: volume Value: 23 – Type: issue Value: 1 Titles: – TitleFull: BMC pediatrics Type: main |
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