Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites.

Saved in:
Bibliographic Details
Title: Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites.
Authors: Muto Y; Department of Pediatrics, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan., Suzuki M; Department of Pediatrics, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan. Electronic address: msuzuki@juntendo.ac.jp., Takei H; Junshin Clinic Bile Acid Institute, 2-1-24 Haramachi, Meguro-ku, Tokyo 152-0011, Japan., Saito N; Department of Pediatrics, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan., Mori J; Division of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, 2-13-22 Miyakojima-hondori, Miyakojima-ku, Osaka 534-0021, Japan., Sugimoto S; Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto 602-8566, Japan., Imagawa K; Department of Child Health, Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8575, Japan., Nambu R; Division of Gastroenterology & Hepatology, Saitama Children's Medical Center, 1-2 Shintoshin, Chuo-ku, Saitama-city 330-8777, Japan., Oguri S; Department of Pediatrics, Oita University Faculty of Medicine, 1-1 Oji-shinmachi, Oita 870-0819, Japan., Itonaga T; Department of Pediatrics, Oita University Faculty of Medicine, 1-1 Oji-shinmachi, Oita 870-0819, Japan., Ihara K; Department of Pediatrics, Oita University Faculty of Medicine, 1-1 Oji-shinmachi, Oita 870-0819, Japan., Hayashi H; Laboratory of Molecular Pharmacokinetics, Graduate School of Pharmaceutical Science, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan., Murayama K; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan., Kakiyama G; Department of Internal Medicine, Virginia Commonwealth University School of Medicine, 1101 E. Marshall St., Richmond, VA 23298, USA; Central Virginia VA Healthcare System, 1201 Broad Rock Blvd., Richmond, VA 23249, USA., Nittono H; Junshin Clinic Bile Acid Institute, 2-1-24 Haramachi, Meguro-ku, Tokyo 152-0011, Japan., Shimizu T; Department of Pediatrics, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.
Source: Molecular genetics and metabolism [Mol Genet Metab] 2023 Sep-Oct; Vol. 140 (1-2), pp. 107703. Date of Electronic Publication: 2023 Sep 28.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 37802748
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Muto+Y%22">Muto Y</searchLink>; Department of Pediatrics, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.<br /><searchLink fieldCode="AU" term="%22Suzuki+M%22">Suzuki M</searchLink>; Department of Pediatrics, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan. Electronic address: msuzuki@juntendo.ac.jp.<br /><searchLink fieldCode="AU" term="%22Takei+H%22">Takei H</searchLink>; Junshin Clinic Bile Acid Institute, 2-1-24 Haramachi, Meguro-ku, Tokyo 152-0011, Japan.<br /><searchLink fieldCode="AU" term="%22Saito+N%22">Saito N</searchLink>; Department of Pediatrics, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.<br /><searchLink fieldCode="AU" term="%22Mori+J%22">Mori J</searchLink>; Division of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, 2-13-22 Miyakojima-hondori, Miyakojima-ku, Osaka 534-0021, Japan.<br /><searchLink fieldCode="AU" term="%22Sugimoto+S%22">Sugimoto S</searchLink>; Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto 602-8566, Japan.<br /><searchLink fieldCode="AU" term="%22Imagawa+K%22">Imagawa K</searchLink>; Department of Child Health, Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8575, Japan.<br /><searchLink fieldCode="AU" term="%22Nambu+R%22">Nambu R</searchLink>; Division of Gastroenterology & Hepatology, Saitama Children's Medical Center, 1-2 Shintoshin, Chuo-ku, Saitama-city 330-8777, Japan.<br /><searchLink fieldCode="AU" term="%22Oguri+S%22">Oguri S</searchLink>; Department of Pediatrics, Oita University Faculty of Medicine, 1-1 Oji-shinmachi, Oita 870-0819, Japan.<br /><searchLink fieldCode="AU" term="%22Itonaga+T%22">Itonaga T</searchLink>; Department of Pediatrics, Oita University Faculty of Medicine, 1-1 Oji-shinmachi, Oita 870-0819, Japan.<br /><searchLink fieldCode="AU" term="%22Ihara+K%22">Ihara K</searchLink>; Department of Pediatrics, Oita University Faculty of Medicine, 1-1 Oji-shinmachi, Oita 870-0819, Japan.<br /><searchLink fieldCode="AU" term="%22Hayashi+H%22">Hayashi H</searchLink>; Laboratory of Molecular Pharmacokinetics, Graduate School of Pharmaceutical Science, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan.<br /><searchLink fieldCode="AU" term="%22Murayama+K%22">Murayama K</searchLink>; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.<br /><searchLink fieldCode="AU" term="%22Kakiyama+G%22">Kakiyama G</searchLink>; Department of Internal Medicine, Virginia Commonwealth University School of Medicine, 1101 E. Marshall St., Richmond, VA 23298, USA; Central Virginia VA Healthcare System, 1201 Broad Rock Blvd., Richmond, VA 23249, USA.<br /><searchLink fieldCode="AU" term="%22Nittono+H%22">Nittono H</searchLink>; Junshin Clinic Bile Acid Institute, 2-1-24 Haramachi, Meguro-ku, Tokyo 152-0011, Japan.<br /><searchLink fieldCode="AU" term="%22Shimizu+T%22">Shimizu T</searchLink>; Department of Pediatrics, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229805456%22">Molecular genetics and metabolism</searchLink> [Mol Genet Metab] 2023 Sep-Oct; Vol. 140 (1-2), pp. 107703. <i>Date of Electronic Publication: </i>2023 Sep 28.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Academic+Press%22">Academic Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9805456 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1096-7206 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210967192%22">10967192 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37802748
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ymgme.2023.107703
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 107703
    Titles:
      – TitleFull: Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Muto Y
      – PersonEntity:
          Name:
            NameFull: Suzuki M
      – PersonEntity:
          Name:
            NameFull: Takei H
      – PersonEntity:
          Name:
            NameFull: Saito N
      – PersonEntity:
          Name:
            NameFull: Mori J
      – PersonEntity:
          Name:
            NameFull: Sugimoto S
      – PersonEntity:
          Name:
            NameFull: Imagawa K
      – PersonEntity:
          Name:
            NameFull: Nambu R
      – PersonEntity:
          Name:
            NameFull: Oguri S
      – PersonEntity:
          Name:
            NameFull: Itonaga T
      – PersonEntity:
          Name:
            NameFull: Ihara K
      – PersonEntity:
          Name:
            NameFull: Hayashi H
      – PersonEntity:
          Name:
            NameFull: Murayama K
      – PersonEntity:
          Name:
            NameFull: Kakiyama G
      – PersonEntity:
          Name:
            NameFull: Nittono H
      – PersonEntity:
          Name:
            NameFull: Shimizu T
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 09
              Text: 2023 Sep-Oct
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-electronic
              Value: 1096-7206
          Numbering:
            – Type: volume
              Value: 140
            – Type: issue
              Value: 1-2
          Titles:
            – TitleFull: Molecular genetics and metabolism
              Type: main
ResultId 1