Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review.
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| Title: | Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review. |
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| Authors: | Rostami P; Division of Pediatric Endocrinology and Metabolism, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Hosseinpour S; Myelin Disorders Clinic (Iranian Neurometabolic Registry), Pediatric Neurology Division, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Ashrafi MR; Myelin Disorders Clinic (Iranian Neurometabolic Registry), Pediatric Neurology Division, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Alizadeh H; Division of Pediatric Radiology, Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Garshasbi M; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Teheran, Iran. masoud.garshasbi@modares.ac.ir., Tavasoli AR; Myelin Disorders Clinic (Iranian Neurometabolic Registry), Pediatric Neurology Division, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. a_tavasoli@sina.tums.ac.ir. |
| Source: | Acta neurologica Belgica [Acta Neurol Belg] 2020 Jun; Vol. 120 (3), pp. 511-516. Date of Electronic Publication: 2019 Jun 20. |
| Publication Type: | Case Reports; Journal Article; Review |
| Journal Info: | Publisher: Springer Country of Publication: Italy NLM ID: 0247035 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2240-2993 (Electronic) Linking ISSN: 03009009 NLM ISO Abbreviation: Acta Neurol Belg Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 31222513 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Rostami+P%22">Rostami P</searchLink>; Division of Pediatric Endocrinology and Metabolism, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Hosseinpour+S%22">Hosseinpour S</searchLink>; Myelin Disorders Clinic (Iranian Neurometabolic Registry), Pediatric Neurology Division, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Ashrafi+MR%22">Ashrafi MR</searchLink>; Myelin Disorders Clinic (Iranian Neurometabolic Registry), Pediatric Neurology Division, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Alizadeh+H%22">Alizadeh H</searchLink>; Division of Pediatric Radiology, Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Garshasbi+M%22">Garshasbi M</searchLink>; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Teheran, Iran. masoud.garshasbi@modares.ac.ir.<br /><searchLink fieldCode="AU" term="%22Tavasoli+AR%22">Tavasoli AR</searchLink>; Myelin Disorders Clinic (Iranian Neurometabolic Registry), Pediatric Neurology Division, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. a&#95;tavasoli@sina.tums.ac.ir. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220247035%22">Acta neurologica Belgica</searchLink> [Acta Neurol Belg] 2020 Jun; Vol. 120 (3), pp. 511-516. <i>Date of Electronic Publication: </i>2019 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="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>Italy <i>NLM ID: </i>0247035 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2240-2993 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203009009%22">03009009 </searchLink><i>NLM ISO Abbreviation: </i>Acta Neurol Belg <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=31222513 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s13760-019-01168-6 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 511 Titles: – TitleFull: Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Rostami P – PersonEntity: Name: NameFull: Hosseinpour S – PersonEntity: Name: NameFull: Ashrafi MR – PersonEntity: Name: NameFull: Alizadeh H – PersonEntity: Name: NameFull: Garshasbi M – PersonEntity: Name: NameFull: Tavasoli AR IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: 2020 Jun Type: published Y: 2020 Identifiers: – Type: issn-electronic Value: 2240-2993 Numbering: – Type: volume Value: 120 – Type: issue Value: 3 Titles: – TitleFull: Acta neurologica Belgica Type: main |
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