View in EDS

Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.

Saved in:
Bibliographic Details
Title: Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.
Authors: Wilke, Matheus Vernet Machado Bressan1,2, Panwar, Deepak2, Verheijen, Johannes M.2,3,4, Umeshita, Saori5, Thurman, Sarah Allen6, Nickels, Katherine7, Darr, Kahlen7, Murakami, Yoshiko5, Klee, Eric2,7, Schimmenti, Lisa A.7, schimmenti.lisa@mayo.edu, Pinto e Vairo, Filippo2,7
Source: American Journal of Medical Genetics. Part A; Jan2026, Vol. 200 Issue 1, p171-177, 7p
Database: Applied Science & Technology Source
FullText Text:
  Availability: 0
Header DbId: aci
DbLabel: Applied Science & Technology Source
An: 189935251
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Wilke%2C+Matheus+Vernet+Machado+Bressan%22">Wilke, Matheus Vernet Machado Bressan</searchLink><relatesTo>1,2</relatesTo><br /><searchLink fieldCode="AU" term="%22Panwar%2C+Deepak%22">Panwar, Deepak</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AU" term="%22Verheijen%2C+Johannes+M%2E%22">Verheijen, Johannes M.</searchLink><relatesTo>2,3,4</relatesTo><br /><searchLink fieldCode="AU" term="%22Umeshita%2C+Saori%22">Umeshita, Saori</searchLink><relatesTo>5</relatesTo><br /><searchLink fieldCode="AU" term="%22Thurman%2C+Sarah+Allen%22">Thurman, Sarah Allen</searchLink><relatesTo>6</relatesTo><br /><searchLink fieldCode="AU" term="%22Nickels%2C+Katherine%22">Nickels, Katherine</searchLink><relatesTo>7</relatesTo><br /><searchLink fieldCode="AU" term="%22Darr%2C+Kahlen%22">Darr, Kahlen</searchLink><relatesTo>7</relatesTo><br /><searchLink fieldCode="AU" term="%22Murakami%2C+Yoshiko%22">Murakami, Yoshiko</searchLink><relatesTo>5</relatesTo><br /><searchLink fieldCode="AU" term="%22Klee%2C+Eric%22">Klee, Eric</searchLink><relatesTo>2,7</relatesTo><br /><searchLink fieldCode="AU" term="%22Schimmenti%2C+Lisa+A%2E%22">Schimmenti, Lisa A.</searchLink><relatesTo>7</relatesTo>, <i>schimmenti.lisa@mayo.edu</i><br /><searchLink fieldCode="AU" term="%22Pinto+e+Vairo%2C+Filippo%22">Pinto e Vairo, Filippo</searchLink><relatesTo>2,7</relatesTo>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22American+Journal+of+Medical+Genetics%2E+Part+A%22">American Journal of Medical Genetics. Part A</searchLink>; Jan2026, Vol. 200 Issue 1, p171-177, 7p
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=189935251
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/ajmg.a.64220
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 7
        StartPage: 171
    Titles:
      – TitleFull: Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Wilke, Matheus Vernet Machado Bressan
      – PersonEntity:
          Name:
            NameFull: Panwar, Deepak
      – PersonEntity:
          Name:
            NameFull: Verheijen, Johannes M.
      – PersonEntity:
          Name:
            NameFull: Umeshita, Saori
      – PersonEntity:
          Name:
            NameFull: Thurman, Sarah Allen
      – PersonEntity:
          Name:
            NameFull: Nickels, Katherine
      – PersonEntity:
          Name:
            NameFull: Darr, Kahlen
      – PersonEntity:
          Name:
            NameFull: Murakami, Yoshiko
      – PersonEntity:
          Name:
            NameFull: Klee, Eric
      – PersonEntity:
          Name:
            NameFull: Schimmenti, Lisa A.
      – PersonEntity:
          Name:
            NameFull: Pinto e Vairo, Filippo
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 01
              Text: Jan2026
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-print
              Value: 15524825
          Numbering:
            – Type: volume
              Value: 200
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: American Journal of Medical Genetics. Part A
              Type: main
ResultId 1