These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

350 related articles for article (PubMed ID: 33845862)

  • 1. Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.
    Hoytema van Konijnenburg EMM; Wortmann SB; Koelewijn MJ; Tseng LA; Houben R; Stöckler-Ipsiroglu S; Ferreira CR; van Karnebeek CDM
    Orphanet J Rare Dis; 2021 Apr; 16(1):170. PubMed ID: 33845862
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases.
    van Karnebeek CD; Houben RF; Lafek M; Giannasi W; Stockler S
    Orphanet J Rare Dis; 2012 Jul; 7():47. PubMed ID: 22824307
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.
    van Karnebeek CD; Stockler S
    Mol Genet Metab; 2012 Mar; 105(3):368-81. PubMed ID: 22212131
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource.
    van Karnebeek CD; Shevell M; Zschocke J; Moeschler JB; Stockler S
    Mol Genet Metab; 2014 Apr; 111(4):428-38. PubMed ID: 24518794
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Inborn errors of metabolism are not hopeless; early identification of treatable conditions in children with intellectual disability].
    van Karnebeek CD
    Ned Tijdschr Geneeskd; 2014; 158():A8042. PubMed ID: 25424630
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.
    Crider K; Williams J; Qi YP; Gutman J; Yeung L; Mai C; Finkelstain J; Mehta S; Pons-Duran C; Menéndez C; Moraleda C; Rogers L; Daniels K; Green P
    Cochrane Database Syst Rev; 2022 Feb; 2(2022):. PubMed ID: 36321557
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities.
    Sayson B; Popurs MA; Lafek M; Berkow R; Stockler-Ipsiroglu S; van Karnebeek CD
    Mol Genet Metab; 2015 May; 115(1):1-9. PubMed ID: 25801009
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Treatable inborn errors of metabolism causing neurological symptoms in adults.
    Sirrs SM; Lehman A; Stockler S; van Karnebeek CD
    Mol Genet Metab; 2013 Dec; 110(4):431-8. PubMed ID: 24427801
    [TBL] [Abstract][Full Text] [Related]  

  • 9. P4 medicine for epilepsy and intellectual disability: nutritional therapy for inherited metabolic disease.
    Tseng LA; Sowerbutt C; Lee JJY; van Karnebeek CDM
    Emerg Top Life Sci; 2019 Mar; 3(1):75-95. PubMed ID: 33523196
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The future of Cochrane Neonatal.
    Soll RF; Ovelman C; McGuire W
    Early Hum Dev; 2020 Nov; 150():105191. PubMed ID: 33036834
    [TBL] [Abstract][Full Text] [Related]  

  • 11. An international classification of inherited metabolic disorders (ICIMD).
    Ferreira CR; Rahman S; Keller M; Zschocke J;
    J Inherit Metab Dis; 2021 Jan; 44(1):164-177. PubMed ID: 33340416
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review.
    Leach EL; Shevell M; Bowden K; Stockler-Ipsiroglu S; van Karnebeek CD
    Orphanet J Rare Dis; 2014 Nov; 9():197. PubMed ID: 25433678
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway.
    Hope S; Johannessen CH; Aanonsen NO; Strømme P
    Eur J Neurol; 2016 Jan; 23 Suppl 1():36-44. PubMed ID: 26563096
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
    Battaglia A; Doccini V; Bernardini L; Novelli A; Loddo S; Capalbo A; Filippi T; Carey JC
    Eur J Paediatr Neurol; 2013 Nov; 17(6):589-99. PubMed ID: 23711909
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Movement Disorders in Treatable Inborn Errors of Metabolism.
    Ebrahimi-Fakhari D; Van Karnebeek C; Münchau A
    Mov Disord; 2019 May; 34(5):598-613. PubMed ID: 30557456
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy.
    Mastrangelo M
    J Pediatr Neurosci; 2018; 13(1):13-23. PubMed ID: 29899766
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Evaluation of the child with global developmental delay and intellectual disability.
    Bélanger SA; Caron J
    Paediatr Child Health; 2018 Sep; 23(6):403-419. PubMed ID: 30919832
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Testing for Inborn Errors of Metabolism.
    Kwon JM
    Continuum (Minneap Minn); 2018 Feb; 24(1, Child Neurology):37-56. PubMed ID: 29432236
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Economic Evaluation Associated With Clinical-Grade Mobile App-Based Digital Therapeutic Interventions: Systematic Review.
    Sapanel Y; Tadeo X; Brenna CTA; Remus A; Koerber F; Cloutier LM; Tremblay G; Blasiak A; Hardesty CL; Yoong J; Ho D
    J Med Internet Res; 2023 Aug; 25():e47094. PubMed ID: 37526973
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel
    Tise CG; Palma MJ; Cusmano-Ozog KP; Matalon DR
    J Investig Med High Impact Case Rep; 2023; 11():23247096231154438. PubMed ID: 36752093
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.