Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review.
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| Title: | Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review. |
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| Authors: | Contreras-Cubas C; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS, Mexico City, Mexico., Barajas-Olmos F; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS, Mexico City, Mexico., Frayre-Martínez MI; Department of Neurophysiology, Hospital de Pediatría, CMN Siglo XXI IMSS, Mexico City, Mexico., Siordia-Reyes G; Department of Pathology, Hospital de Pediatría, CMN Siglo XXI IMSS, Mexico City, Mexico., Guízar-Sánchez CC; Department of Physical Medicine and Rehabilitation, Hospital de Pediatría, CMN Siglo XXI IMSS, Mexico City, Mexico., García-Ortiz H; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS, Mexico City, Mexico., Orozco L; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS, Mexico City, Mexico., Baca V; Department of Rheumatology, Hospital de Pediatría, CMN Siglo XXI IMSS, Mexico City, Mexico. vicbaca@infinitummail.com. |
| Source: | BMC medical genomics [BMC Med Genomics] 2022 Jun 20; Vol. 15 (1), pp. 139. Date of Electronic Publication: 2022 Jun 20. |
| Publication Type: | Case Reports; Journal Article; Review |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 35725460 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Contreras-Cubas+C%22">Contreras-Cubas C</searchLink>; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Barajas-Olmos+F%22">Barajas-Olmos F</searchLink>; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Frayre-Martínez+MI%22">Frayre-Martínez MI</searchLink>; Department of Neurophysiology, Hospital de Pediatría, CMN Siglo XXI IMSS, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Siordia-Reyes+G%22">Siordia-Reyes G</searchLink>; Department of Pathology, Hospital de Pediatría, CMN Siglo XXI IMSS, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Guízar-Sánchez+CC%22">Guízar-Sánchez CC</searchLink>; Department of Physical Medicine and Rehabilitation, Hospital de Pediatría, CMN Siglo XXI IMSS, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22García-Ortiz+H%22">García-Ortiz H</searchLink>; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Orozco+L%22">Orozco L</searchLink>; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Baca+V%22">Baca V</searchLink>; Department of Rheumatology, Hospital de Pediatría, CMN Siglo XXI IMSS, Mexico City, Mexico. vicbaca@infinitummail.com. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101319628%22">BMC medical genomics</searchLink> [BMC Med Genomics] 2022 Jun 20; Vol. 15 (1), pp. 139. <i>Date of Electronic Publication: </i>2022 Jun 20. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Review – 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>101319628 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1755-8794 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217558794%22">17558794 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genomics <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35725460 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s12920-022-01284-y Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 139 Titles: – TitleFull: Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Contreras-Cubas C – PersonEntity: Name: NameFull: Barajas-Olmos F – PersonEntity: Name: NameFull: Frayre-Martínez MI – PersonEntity: Name: NameFull: Siordia-Reyes G – PersonEntity: Name: NameFull: Guízar-Sánchez CC – PersonEntity: Name: NameFull: García-Ortiz H – PersonEntity: Name: NameFull: Orozco L – PersonEntity: Name: NameFull: Baca V IsPartOfRelationships: – BibEntity: Dates: – D: 20 M: 06 Text: 2022 Jun 20 Type: published Y: 2022 Identifiers: – Type: issn-electronic Value: 1755-8794 Numbering: – Type: volume Value: 15 – Type: issue Value: 1 Titles: – TitleFull: BMC medical genomics Type: main |
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