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 *

374 related articles for article (PubMed ID: 25424630)

  • 1. [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]  

  • 2. 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]  

  • 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 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 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. Mental retardation and inborn errors of metabolism.
    García-Cazorla A; Wolf NI; Serrano M; Moog U; Pérez-Dueñas B; Póo P; Pineda M; Campistol J; Hoffmann GF
    J Inherit Metab Dis; 2009 Oct; 32(5):597-608. PubMed ID: 19685154
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Metabolic disorders associated with mental retardation.
    Hsia DY; Berman JL; Justice P; Nadler HL; O'Flynn ME
    Pediatr Clin North Am; 1968 Nov; 15(4):889-904. PubMed ID: 4883204
    [No Abstract]   [Full Text] [Related]  

  • 12. Genetic diagnostic studies for mental retardation.
    Beaudet AL
    Curr Probl Pediatr; 1978 Mar; 8(5):1-47. PubMed ID: 657833
    [No Abstract]   [Full Text] [Related]  

  • 13. Investigating intellectual disability: a genetic perspective.
    Poplawski NK
    J Paediatr Child Health; 2003; 39(7):492-506. PubMed ID: 12969201
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders.
    Márquez-Caraveo ME; Ibarra-González I; Rodríguez-Valentín R; Ramírez-García MÁ; Pérez-Barrón V; Lazcano-Ponce E; Vela-Amieva M
    J Autism Dev Disord; 2021 Jun; 51(6):2124-2131. PubMed ID: 32880084
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Exome Sequencing and the Management of Neurometabolic Disorders.
    Tarailo-Graovac M; Shyr C; Ross CJ; Horvath GA; Salvarinova R; Ye XC; Zhang LH; Bhavsar AP; Lee JJ; Drögemöller BI; Abdelsayed M; Alfadhel M; Armstrong L; Baumgartner MR; Burda P; Connolly MB; Cameron J; Demos M; Dewan T; Dionne J; Evans AM; Friedman JM; Garber I; Lewis S; Ling J; Mandal R; Mattman A; McKinnon M; Michoulas A; Metzger D; Ogunbayo OA; Rakic B; Rozmus J; Ruben P; Sayson B; Santra S; Schultz KR; Selby K; Shekel P; Sirrs S; Skrypnyk C; Superti-Furga A; Turvey SE; Van Allen MI; Wishart D; Wu J; Wu J; Zafeiriou D; Kluijtmans L; Wevers RA; Eydoux P; Lehman AM; Vallance H; Stockler-Ipsiroglu S; Sinclair G; Wasserman WW; van Karnebeek CD
    N Engl J Med; 2016 Jun; 374(23):2246-55. PubMed ID: 27276562
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The genetic component in mentally retarded South Indian children.
    Joshua GE
    Indian J Med Res; 1974 Aug; 62(8):1251-60. PubMed ID: 4442985
    [No Abstract]   [Full Text] [Related]  

  • 17. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.
    Waisbren SE; Albers S; Amato S; Ampola M; Brewster TG; Demmer L; Eaton RB; Greenstein R; Korson M; Larson C; Marsden D; Msall M; Naylor EW; Pueschel S; Seashore M; Shih VE; Levy HL
    JAMA; 2003 Nov; 290(19):2564-72. PubMed ID: 14625333
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Inborn errors of metabolism in the differential diagnosis of fatty liver disease.
    Yıldız Y; Sivri HS
    Turk J Gastroenterol; 2020 Jan; 31(1):3-16. PubMed ID: 32009609
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Update on the investigation of children with delayed development.
    Silove N; Collins F; Ellaway C
    J Paediatr Child Health; 2013 Jul; 49(7):519-25. PubMed ID: 23600797
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Metabolic screening and metabolomics analysis in the Intellectual Developmental Disorders Mexico Study.
    Ibarra-González I; Rodríguez-Valentín R; Lazcano-Ponce E; Vela-Amieva M
    Salud Publica Mex; 2017; 59(4):423-428. PubMed ID: 29211263
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.