Literature DB >> 30579583

Early Indicators of Creatine Transporter Deficiency.

Judith S Miller1, Rebecca P Thomas2, Amanda Bennett2, Simona Bianconi3, Aleksandra Bruchey4, Robert J Davis4, Can Ficicioglu5, Whitney Guthrie2, Forbes D Porter6, Audrey Thurm7.   

Abstract

Early identification is a goal for creatine transporter deficiency and will be critical for future treatment. Before their first birthday, one-half of this sample showed both a significant feeding/weight gain issue and delayed sitting or crawling. Combined, these early indicators could have alerted providers to conduct a urine screen.
Copyright © 2018 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  failure to thrive; infant vomiting; motor delay

Mesh：

Substances：

Year:  2018        PMID： 30579583      PMCID： PMC6693671          DOI： 10.1016/j.jpeds.2018.11.008

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  10 in total

Review 1.  Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

Authors:  D J Michelson; M I Shevell; E H Sherr; J B Moeschler; A L Gropman; S Ashwal
Journal:  Neurology       Date:  2011-09-28       Impact factor: 9.910

Review 2.  Comprehensive evaluation of the child with intellectual disability or global developmental delays.

Authors:  John B Moeschler; Michael Shevell
Journal:  Pediatrics       Date:  2014-09       Impact factor: 7.124

3.  X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

Authors:  G S Salomons; S J van Dooren; N M Verhoeven; K M Cecil; W S Ball; T J Degrauw; C Jakobs
Journal:  Am J Hum Genet       Date:  2001-04-20       Impact factor: 11.025

4.  Failure to thrive: current clinical concepts.

Authors:  Arthur C Jaffe
Journal:  Pediatr Rev       Date:  2011-03

5.  Gastrointestinal problems in 15q duplication syndrome.

Authors:  Elias A Shaaya; Sarah F Pollack; Susana Boronat; Shelby Davis-Cooper; Garrett C Zella; Ronald L Thibert
Journal:  Eur J Med Genet       Date:  2015-01-05       Impact factor: 2.708

6.  Early-Life Epilepsies and the Emerging Role of Genetic Testing.

Authors:  Anne T Berg; Jason Coryell; Russell P Saneto; Zachary M Grinspan; John J Alexander; Mariana Kekis; Joseph E Sullivan; Elaine C Wirrell; Renée A Shellhaas; John R Mytinger; William D Gaillard; Eric H Kossoff; Ignacio Valencia; Kelly G Knupp; Courtney Wusthoff; Cynthia Keator; William B Dobyns; Nicole Ryan; Tobias Loddenkemper; Catherine J Chu; Edward J Novotny; Sookyong Koh
Journal:  JAMA Pediatr       Date:  2017-09-01       Impact factor: 16.193

7.  Failure to thrive. The role of clinical and laboratory evaluation.

Authors:  R H Sills
Journal:  Am J Dis Child       Date:  1978-10

8.  Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.

Authors:  Audrey Thurm; Daniel Himelstein; Precilla DʼSouza; Owen Rennert; Susanqi Jiang; Damilola Olatunji; Nicola Longo; Marzia Pasquali; Susan Swedo; Gajja S Salomons; Nuria Carrillo
Journal:  J Dev Behav Pediatr       Date:  2016-05       Impact factor: 2.225

9.  Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.

Authors:  J Daniel Sharer; Olaf Bodamer; Nicola Longo; Silvia Tortorelli; Mirjam M C Wamelink; Sarah Young
Journal:  Genet Med       Date:  2017-01-05       Impact factor: 8.822

Review 10.  Current evidence-based recommendations on investigating children with global developmental delay.

Authors:  Renuka Mithyantha; Rachel Kneen; Emma McCann; Melissa Gladstone
Journal:  Arch Dis Child       Date:  2017-11       Impact factor: 3.791
  10 in total
  2 in total

Review 1.  The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development.

Authors:  Elsa Ghirardini; Francesco Calugi; Giulia Sagona; Federica Di Vetta; Martina Palma; Roberta Battini; Giovanni Cioni; Tommaso Pizzorusso; Laura Baroncelli
Journal:  Genes (Basel)       Date:  2021-07-24       Impact factor: 4.096

2.  A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism.

Authors:  Lara Duran-Trio; Gabriella Fernandes-Pires; Dunja Simicic; Jocelyn Grosse; Clothilde Roux-Petronelli; Stephen J Bruce; Pierre-Alain Binz; Carmen Sandi; Cristina Cudalbu; Olivier Braissant
Journal:  Sci Rep       Date:  2021-01-15       Impact factor: 4.379
  2 in total

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