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 *

215 related articles for article (PubMed ID: 11950394)

  • 1. The significance of opthalmologic evaluation in the early diagnosis of inborn errors of metabolism: the Cretan experience.
    Tsagaraki DP; Evangeliou AE; Tsilimbaris M; Spilioti MG; Mihailidou EP; Lionis C; Pallikaris I
    BMC Ophthalmol; 2002 Apr; 2():2. PubMed ID: 11950394
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hematological abnormalities in inborn errors of metabolism--how frequent are they? The Cretan experience.
    Evangeliou A; Dafnis E; Perdikoyanni C; Spilioti M; Lionis C; Kalmanti M
    Pediatr Hematol Oncol; 2002 Dec; 19(8):581-5. PubMed ID: 12487834
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
    Jiang M; Liu L; Mei H; Li X; Cheng J; Cai Y
    J Pediatr Endocrinol Metab; 2015 Mar; 28(3-4):375-80. PubMed ID: 25781538
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Selective screening for inborn errors of metabolism: the primary care-based model in rural Crete.
    Evangeliou A; Lionis C; Michailidou H; Spilioti M; Kanitsakis A; Nikitakis P; Drakonakis N; Giannakopoulou C; Sbyrakis S; Sewell AC; Boehles HJ; Smeitink J; Wevers RA
    J Inherit Metab Dis; 2001 Dec; 24(8):877-80. PubMed ID: 11916324
    [No Abstract]   [Full Text] [Related]  

  • 5. Inborn Errors of Metabolism: From Preconception to Adulthood.
    Kruszka P; Regier D
    Am Fam Physician; 2019 Jan; 99(1):25-32. PubMed ID: 30600976
    [TBL] [Abstract][Full Text] [Related]  

  • 6. INITIAL CLINICAL PRESENTATION IN CASES OF INBORN ERRORS OF METABOLISM IN A REFERENCE CHILDREN'S HOSPITAL: STILL A DIAGNOSTIC CHALLENGE.
    Romão A; Simon PEA; Góes JEC; Pinto LLC; Giugliani R; Luca GR; Carvalho FLC
    Rev Paul Pediatr; 2017; 35(3):258-264. PubMed ID: 28977297
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China.
    Yang CJ; Wei N; Li M; Xie K; Li JQ; Huang CG; Xiao YS; Liu WH; Chen XG
    BMC Pediatr; 2018 Mar; 18(1):110. PubMed ID: 29534692
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Inborn errors of metabolism (IEM) in adults. A new challenge to internal medicine].
    Schwarz M; Wendel U
    Med Klin (Munich); 2005 Sep; 100(9):547-52. PubMed ID: 16170643
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism.
    Coelho JC; Wajner M; Burin MG; Vargas CR; Giugliani R
    Eur J Pediatr; 1997 Aug; 156(8):650-4. PubMed ID: 9266201
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pilot use of the early motor repertoire in infants with inborn errors of metabolism: outcomes in early and middle childhood.
    Bruggink JL; van Spronsen FJ; Wijnberg-Williams BJ; Bos AF
    Early Hum Dev; 2009 Jul; 85(7):461-5. PubMed ID: 19403245
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management.
    Saudubray JM; Garcia-Cazorla À
    Pediatr Clin North Am; 2018 Apr; 65(2):179-208. PubMed ID: 29502909
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning.
    Therrell BL; Lloyd-Puryear MA; Camp KM; Mann MY
    Mol Genet Metab; 2014; 113(1-2):14-26. PubMed ID: 25085281
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Evaluation of clinical and electroencephalographic findings in patients with early childhood epilepsy and inborn errors of metabolism.
    Celik H; Ozdemir FMA; Aksoy E; Oztoprak U; Kilic M; Yuksel D
    Acta Neurol Belg; 2022 Dec; 122(6):1575-1581. PubMed ID: 35987972
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Inborn Errors of Metabolism with Seizures: Defects of Glycine and Serine Metabolism and Cofactor-Related Disorders.
    Almannai M; El-Hattab AW
    Pediatr Clin North Am; 2018 Apr; 65(2):279-299. PubMed ID: 29502914
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Inborn errors of metabolism and coronavirus disease 2019: Evaluation of the metabolic outcome.
    Zubarioglu T; Hopurcuoglu D; Ahmadzada S; Uzunyayla-Inci G; Cansever MS; Kiykim E; Aktuglu-Zeybek C
    Pediatr Int; 2022 Jan; 64(1):e14938. PubMed ID: 34329521
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Inborn errors of metabolism. Sensitivity of screening tests in high risk patients.
    Giugliani R; Dutra-Filho CS; Barth ML; Dutra JC; Wajner M; Wannmacher CM; Montagner LT
    Clin Pediatr (Phila); 1989 Nov; 28(11):494-7. PubMed ID: 2680214
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Inborn errors of metabolism and expanded newborn screening: review and update.
    Mak CM; Lee HC; Chan AY; Lam CW
    Crit Rev Clin Lab Sci; 2013 Nov; 50(6):142-62. PubMed ID: 24295058
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Impact of inborn errors of metabolism on admission and mortality in a pediatric intensive care unit.
    Jouvet P; Touati G; Lesage F; Dupic L; Tucci M; Saudubray JM; Hubert P
    Eur J Pediatr; 2007 May; 166(5):461-5. PubMed ID: 16941128
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong.
    Mak CM; Law EC; Lee HH; Siu WK; Chow KM; Au Yeung SK; Ngan HY; Tse NK; Kwong NS; Chan GC; Lee KW; Chan WP; Wong SF; Tang MH; Kan AS; Hui AP; So PL; Shek CC; Lee RS; Wong KY; Yau EK; Poon KH; Siu S; Poon GW; Kwok AM; Ng JW; Yim VC; Ma GG; Chu CH; Tong TY; Chong YK; Chen SP; Ching CK; Chan AO; Tam S; Lau RL; Ng WF; Lee KC; Chan AY; Lam CW
    Hong Kong Med J; 2018 Jun; 24(3):226-237. PubMed ID: 29888706
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives.
    Wertheim-Tysarowska K; Gos M; Sykut-Cegielska J; Bal J
    Dev Period Med; 2015; 19(4):413-31. PubMed ID: 26982749
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.