View in EDS

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.

Saved in:
Bibliographic Details
Title: Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.
Authors: Miller JS; Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address: MillerJ3@chop.edu., Farmer C; Neurodevelopmental and Behavioral Phenotyping Service, Office of the Clinical Director, National Institute of Mental Health, Bethesda, Maryland., Blair S; Ultragenyx Pharmaceutical Inc., Novato, California., Bianconi S; Formerly Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland., Akshoomoff N; Department of Pediatrics, University of California San Diego, La Jolla, California., Anselm I; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Barshop BA; Department of Pediatrics, University of California San Diego, La Jolla, California., Becker L; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland., Bennett AE; Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Berry LN; Department of Pediatrics, Baylor College of Medicine, Houston, Texas; Meyer Center for Developmental Pediatrics and Autism, Texas Children's Hospital, Houston, Texas., Berry-Kravis EM; Departments of Pediatrics, Neurological Sciences, and Anatomy and Cell Biology, Rush University Medical Center, Chicago, Illinois., Bruchey A; Formerly Lumos Pharma, Austin, Texas., Byars AW; Comprehensive Epilepsy Center, Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio., Cimms T; Ultragenyx Pharmaceutical Inc., Novato, California., Cecil KM; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio; Department of Radiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Radiology, University of Cincinnati College of Medicine, Cincinnati, Ohio., Covello M; Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Cubit LS; Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Das T; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland., Davis RJ; Lumos Pharma, Austin, Texas., Drye M; Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Ficicioglu C; Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Fulton JB; Department of Pediatric Behavioral Health, Primary Children's Hospital, Salt Lake City, Utah; Department of Pediatrics, University of Utah, Salt Lake City, Utah., Goin-Kochel RP; Meyer Center for Developmental Pediatrics and Autism, Texas Children's Hospital, Houston, Texas., Guthrie W; Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Hallinan BE; Comprehensive Epilepsy Center, Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio., Hannah-Shmouni F; Section on Endocrinology and Genetics, National Institutes of Health, Bethesda, Maryland., Gustafson KE; Department of Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, North Carolina., Koeberl DD; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, North Carolina., Longo N; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah., Mamak E; Department of Psychology, The Hospital for Sick Children, Toronto, Ontario, Canada., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Faculty of Medicine and Dentistry, Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Michalak C; Department of Pediatrics, Rush University, Chicago, Illinois., Porter FD; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland., Rahhal S; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland., Rees L; Formerly Ultragenyx Pharmaceutical Inc., Novato, California., Spiridigliozzi GA; Department of Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, North Carolina., Stone C; Duke Center for Autism and Brain Development, Duke University School of Medicine, Durham, North Carolina., Sullivan NR; Division of Developmental Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Thomas RP; Formerly Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Udhnani M; Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Waisbren S; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Manton Center for Orphan Disease Research, Boston, Massachusetts., Xu M; Ultragenyx Pharmaceutical Inc., Novato, California., Zhang L; Formerly Ultragenyx Pharmaceutical Inc., Novato, California., Brandabur M; Formerly Ultragenyx Pharmaceutical Inc., Novato, California., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, Office of the Clinical Director, National Institute of Mental Health, Bethesda, Maryland.
Source: Pediatric neurology [Pediatr Neurol] 2026 Feb; Vol. 175, pp. 8-18. Date of Electronic Publication: 2025 Oct 30.
Publication Type: Journal Article; Observational Study
Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41260060
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Miller+JS%22">Miller JS</searchLink>; Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address: MillerJ3@chop.edu.<br /><searchLink fieldCode="AU" term="%22Farmer+C%22">Farmer C</searchLink>; Neurodevelopmental and Behavioral Phenotyping Service, Office of the Clinical Director, National Institute of Mental Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Blair+S%22">Blair S</searchLink>; Ultragenyx Pharmaceutical Inc., Novato, California.<br /><searchLink fieldCode="AU" term="%22Bianconi+S%22">Bianconi S</searchLink>; Formerly Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Akshoomoff+N%22">Akshoomoff N</searchLink>; Department of Pediatrics, University of California San Diego, La Jolla, California.<br /><searchLink fieldCode="AU" term="%22Anselm+I%22">Anselm I</searchLink>; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Barshop+BA%22">Barshop BA</searchLink>; Department of Pediatrics, University of California San Diego, La Jolla, California.<br /><searchLink fieldCode="AU" term="%22Becker+L%22">Becker L</searchLink>; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Bennett+AE%22">Bennett AE</searchLink>; Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Berry+LN%22">Berry LN</searchLink>; Department of Pediatrics, Baylor College of Medicine, Houston, Texas; Meyer Center for Developmental Pediatrics and Autism, Texas Children's Hospital, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Berry-Kravis+EM%22">Berry-Kravis EM</searchLink>; Departments of Pediatrics, Neurological Sciences, and Anatomy and Cell Biology, Rush University Medical Center, Chicago, Illinois.<br /><searchLink fieldCode="AU" term="%22Bruchey+A%22">Bruchey A</searchLink>; Formerly Lumos Pharma, Austin, Texas.<br /><searchLink fieldCode="AU" term="%22Byars+AW%22">Byars AW</searchLink>; Comprehensive Epilepsy Center, Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.<br /><searchLink fieldCode="AU" term="%22Cimms+T%22">Cimms T</searchLink>; Ultragenyx Pharmaceutical Inc., Novato, California.<br /><searchLink fieldCode="AU" term="%22Cecil+KM%22">Cecil KM</searchLink>; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio; Department of Radiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Radiology, University of Cincinnati College of Medicine, Cincinnati, Ohio.<br /><searchLink fieldCode="AU" term="%22Covello+M%22">Covello M</searchLink>; Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Cubit+LS%22">Cubit LS</searchLink>; Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Das+T%22">Das T</searchLink>; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Davis+RJ%22">Davis RJ</searchLink>; Lumos Pharma, Austin, Texas.<br /><searchLink fieldCode="AU" term="%22Drye+M%22">Drye M</searchLink>; Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Ficicioglu+C%22">Ficicioglu C</searchLink>; Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Fulton+JB%22">Fulton JB</searchLink>; Department of Pediatric Behavioral Health, Primary Children's Hospital, Salt Lake City, Utah; Department of Pediatrics, University of Utah, Salt Lake City, Utah.<br /><searchLink fieldCode="AU" term="%22Goin-Kochel+RP%22">Goin-Kochel RP</searchLink>; Meyer Center for Developmental Pediatrics and Autism, Texas Children's Hospital, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Guthrie+W%22">Guthrie W</searchLink>; Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Hallinan+BE%22">Hallinan BE</searchLink>; Comprehensive Epilepsy Center, Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.<br /><searchLink fieldCode="AU" term="%22Hannah-Shmouni+F%22">Hannah-Shmouni F</searchLink>; Section on Endocrinology and Genetics, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Gustafson+KE%22">Gustafson KE</searchLink>; Department of Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, North Carolina.<br /><searchLink fieldCode="AU" term="%22Koeberl+DD%22">Koeberl DD</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, North Carolina.<br /><searchLink fieldCode="AU" term="%22Longo+N%22">Longo N</searchLink>; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah.<br /><searchLink fieldCode="AU" term="%22Mamak+E%22">Mamak E</searchLink>; Department of Psychology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Mercimek-Andrews+S%22">Mercimek-Andrews S</searchLink>; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Faculty of Medicine and Dentistry, Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Michalak+C%22">Michalak C</searchLink>; Department of Pediatrics, Rush University, Chicago, Illinois.<br /><searchLink fieldCode="AU" term="%22Porter+FD%22">Porter FD</searchLink>; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Rahhal+S%22">Rahhal S</searchLink>; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Rees+L%22">Rees L</searchLink>; Formerly Ultragenyx Pharmaceutical Inc., Novato, California.<br /><searchLink fieldCode="AU" term="%22Spiridigliozzi+GA%22">Spiridigliozzi GA</searchLink>; Department of Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, North Carolina.<br /><searchLink fieldCode="AU" term="%22Stone+C%22">Stone C</searchLink>; Duke Center for Autism and Brain Development, Duke University School of Medicine, Durham, North Carolina.<br /><searchLink fieldCode="AU" term="%22Sullivan+NR%22">Sullivan NR</searchLink>; Division of Developmental Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Sutton+VR%22">Sutton VR</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Thomas+RP%22">Thomas RP</searchLink>; Formerly Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Udhnani+M%22">Udhnani M</searchLink>; Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Waisbren+S%22">Waisbren S</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Manton Center for Orphan Disease Research, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Xu+M%22">Xu M</searchLink>; Ultragenyx Pharmaceutical Inc., Novato, California.<br /><searchLink fieldCode="AU" term="%22Zhang+L%22">Zhang L</searchLink>; Formerly Ultragenyx Pharmaceutical Inc., Novato, California.<br /><searchLink fieldCode="AU" term="%22Brandabur+M%22">Brandabur M</searchLink>; Formerly Ultragenyx Pharmaceutical Inc., Novato, California.<br /><searchLink fieldCode="AU" term="%22Thurm+A%22">Thurm A</searchLink>; Neurodevelopmental and Behavioral Phenotyping Service, Office of the Clinical Director, National Institute of Mental Health, Bethesda, Maryland.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%228508183%22">Pediatric neurology</searchLink> [Pediatr Neurol] 2026 Feb; Vol. 175, pp. 8-18. <i>Date of Electronic Publication: </i>2025 Oct 30.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Observational Study
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Science+Publishing%22">Elsevier Science Publishing </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8508183 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1873-5150 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208878994%22">08878994 </searchLink><i>NLM ISO Abbreviation: </i>Pediatr Neurol <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41260060
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.pediatrneurol.2025.10.023
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 8
    Titles:
      – TitleFull: Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Miller JS
      – PersonEntity:
          Name:
            NameFull: Farmer C
      – PersonEntity:
          Name:
            NameFull: Blair S
      – PersonEntity:
          Name:
            NameFull: Bianconi S
      – PersonEntity:
          Name:
            NameFull: Akshoomoff N
      – PersonEntity:
          Name:
            NameFull: Anselm I
      – PersonEntity:
          Name:
            NameFull: Barshop BA
      – PersonEntity:
          Name:
            NameFull: Becker L
      – PersonEntity:
          Name:
            NameFull: Bennett AE
      – PersonEntity:
          Name:
            NameFull: Berry LN
      – PersonEntity:
          Name:
            NameFull: Berry-Kravis EM
      – PersonEntity:
          Name:
            NameFull: Bruchey A
      – PersonEntity:
          Name:
            NameFull: Byars AW
      – PersonEntity:
          Name:
            NameFull: Cimms T
      – PersonEntity:
          Name:
            NameFull: Cecil KM
      – PersonEntity:
          Name:
            NameFull: Covello M
      – PersonEntity:
          Name:
            NameFull: Cubit LS
      – PersonEntity:
          Name:
            NameFull: Das T
      – PersonEntity:
          Name:
            NameFull: Davis RJ
      – PersonEntity:
          Name:
            NameFull: Drye M
      – PersonEntity:
          Name:
            NameFull: Ficicioglu C
      – PersonEntity:
          Name:
            NameFull: Fulton JB
      – PersonEntity:
          Name:
            NameFull: Goin-Kochel RP
      – PersonEntity:
          Name:
            NameFull: Guthrie W
      – PersonEntity:
          Name:
            NameFull: Hallinan BE
      – PersonEntity:
          Name:
            NameFull: Hannah-Shmouni F
      – PersonEntity:
          Name:
            NameFull: Gustafson KE
      – PersonEntity:
          Name:
            NameFull: Koeberl DD
      – PersonEntity:
          Name:
            NameFull: Longo N
      – PersonEntity:
          Name:
            NameFull: Mamak E
      – PersonEntity:
          Name:
            NameFull: Mercimek-Andrews S
      – PersonEntity:
          Name:
            NameFull: Michalak C
      – PersonEntity:
          Name:
            NameFull: Porter FD
      – PersonEntity:
          Name:
            NameFull: Rahhal S
      – PersonEntity:
          Name:
            NameFull: Rees L
      – PersonEntity:
          Name:
            NameFull: Spiridigliozzi GA
      – PersonEntity:
          Name:
            NameFull: Stone C
      – PersonEntity:
          Name:
            NameFull: Sullivan NR
      – PersonEntity:
          Name:
            NameFull: Sutton VR
      – PersonEntity:
          Name:
            NameFull: Thomas RP
      – PersonEntity:
          Name:
            NameFull: Udhnani M
      – PersonEntity:
          Name:
            NameFull: Waisbren S
      – PersonEntity:
          Name:
            NameFull: Xu M
      – PersonEntity:
          Name:
            NameFull: Zhang L
      – PersonEntity:
          Name:
            NameFull: Brandabur M
      – PersonEntity:
          Name:
            NameFull: Thurm A
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 02
              Text: 2026 Feb
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1873-5150
          Numbering:
            – Type: volume
              Value: 175
          Titles:
            – TitleFull: Pediatric neurology
              Type: main
ResultId 1