Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers.
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| Title: | Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers. |
|---|---|
| Authors: | Ijaz, Aamir1 (AUTHOR), Abbas, Seyyedha1 (AUTHOR) syedhabia@gmail.com, Shabbir, Maria2 (AUTHOR) mshabbir@asab.nust.edu.pk, Badshah, Yasmin2 (AUTHOR) yasmeenb_1982@yahoo.com, Abid, Fizzah2 (AUTHOR) fabid.phdabs21asab@student.nust.edu.pk, Afsar, Tayyaba3 (AUTHOR), Razak, Suhail3 (AUTHOR) smarazi@ksu.edu.sa |
| Source: | Orphanet Journal of Rare Diseases. 8/11/2025, Vol. 20 Issue 1, p1-12. 12p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 187261427 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Ijaz%2C+Aamir%22">Ijaz, Aamir</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Abbas%2C+Seyyedha%22">Abbas, Seyyedha</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> syedhabia@gmail.com</i><br /><searchLink fieldCode="AR" term="%22Shabbir%2C+Maria%22">Shabbir, Maria</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> mshabbir@asab.nust.edu.pk</i><br /><searchLink fieldCode="AR" term="%22Badshah%2C+Yasmin%22">Badshah, Yasmin</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> yasmeenb_1982@yahoo.com</i><br /><searchLink fieldCode="AR" term="%22Abid%2C+Fizzah%22">Abid, Fizzah</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> fabid.phdabs21asab@student.nust.edu.pk</i><br /><searchLink fieldCode="AR" term="%22Afsar%2C+Tayyaba%22">Afsar, Tayyaba</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Razak%2C+Suhail%22">Razak, Suhail</searchLink><relatesTo>3</relatesTo> (AUTHOR)<i> smarazi@ksu.edu.sa</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 8/11/2025, Vol. 20 Issue 1, p1-12. 12p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=187261427 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-025-03979-8 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 12 StartPage: 1 Titles: – TitleFull: Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Ijaz, Aamir – PersonEntity: Name: NameFull: Abbas, Seyyedha – PersonEntity: Name: NameFull: Shabbir, Maria – PersonEntity: Name: NameFull: Badshah, Yasmin – PersonEntity: Name: NameFull: Abid, Fizzah – PersonEntity: Name: NameFull: Afsar, Tayyaba – PersonEntity: Name: NameFull: Razak, Suhail IsPartOfRelationships: – BibEntity: Dates: – D: 11 M: 08 Text: 8/11/2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 17501172 Numbering: – Type: volume Value: 20 – Type: issue Value: 1 Titles: – TitleFull: Orphanet Journal of Rare Diseases Type: main |
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