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 *

260 related articles for article (PubMed ID: 24970580)

  • 21. Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis.
    Pfeil J; Listl S; Hoffmann GF; Kölker S; Lindner M; Burgard P
    Orphanet J Rare Dis; 2013 Oct; 8():167. PubMed ID: 24135440
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [Mass Screening for Inborn Errors of Metabolism].
    Ito T
    Rinsho Byori; 2015 Apr; 63(4):441-9. PubMed ID: 26536777
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
    Rovelli V; Manzoni F; Viau K; Pasquali M; Longo N
    Mol Genet Metab; 2019 May; 127(1):64-73. PubMed ID: 31031081
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
    Landau YE; Waisbren SE; Chan LM; Levy HL
    J Inherit Metab Dis; 2017 Mar; 40(2):209-218. PubMed ID: 28054209
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Newborn screening programme expanded.
    Community Pract; 2015 Feb; 88(2):5. PubMed ID: 25720200
    [No Abstract]   [Full Text] [Related]  

  • 26. The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).
    Hesse J; Braun C; Behringer S; Matysiak U; Spiekerkoetter U; Tucci S
    J Inherit Metab Dis; 2018 Nov; 41(6):1169-1178. PubMed ID: 30194637
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.
    Ryder B; Knoll D; Love DR; Shepherd P; Love JM; Reed PW; de Hora M; Webster D; Glamuzina E; Wilson C
    J Inherit Metab Dis; 2016 May; 39(3):409-414. PubMed ID: 26743058
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach.
    Catanzano F; Ombrone D; Di Stefano C; Rossi A; Nosari N; Scolamiero E; Tandurella I; Frisso G; Parenti G; Ruoppolo M; Andria G; Salvatore F
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3(Suppl 3):S91-4. PubMed ID: 20157782
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Newborn Screening Program in the Community of Madrid: evaluation of positive cases.].
    Cambra Conejero A; Martínez Figueras L; Ortiz Temprado A; Blanco Soto P; Martín Rivada Á; Palomino Pérez L; Cañedo Villarroya E; Pedrón Giner C; Quijada Fraile P; Martín-Hernández E; García Silva MT; Chumillas Calzada S; Bellusci M; Belanger-Quintana A; Stanescu S; Martínez-Pardo Casanova M; Moráis López A; Bergua Martínez A; Ruiz-Salas P; Pérez González B; Ugarte M; Ruano MLF
    Rev Esp Salud Publica; 2020 Dec; 94():. PubMed ID: 33372917
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
    Moorthie S; Cameron L; Sagoo GS; Bonham JR; Burton H
    J Inherit Metab Dis; 2014 Nov; 37(6):889-98. PubMed ID: 25022222
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
    Miller MJ; Burrage LC; Gibson JB; Strenk ME; Lose EJ; Bick DP; Elsea SH; Sutton VR; Sun Q; Graham BH; Craigen WJ; Zhang VW; Wong LJ
    Mol Genet Metab; 2015 Nov; 116(3):139-45. PubMed ID: 26385305
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.
    Yamada K; Taketani T
    J Hum Genet; 2019 Feb; 64(2):73-85. PubMed ID: 30401918
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Diagnosis and management of glutaric aciduria type I--revised recommendations.
    Kölker S; Christensen E; Leonard JV; Greenberg CR; Boneh A; Burlina AB; Burlina AP; Dixon M; Duran M; García Cazorla A; Goodman SI; Koeller DM; Kyllerman M; Mühlhausen C; Müller E; Okun JG; Wilcken B; Hoffmann GF; Burgard P
    J Inherit Metab Dis; 2011 Jun; 34(3):677-94. PubMed ID: 21431622
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.
    Diekman EF; Ferdinandusse S; van der Pol L; Waterham HR; Ruiter JP; Ijlst L; Wanders RJ; Houten SM; Wijburg FA; Blank AC; Asselbergs FW; Houtkooper RH; Visser G
    Genet Med; 2015 Dec; 17(12):989-94. PubMed ID: 25834949
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Evaluation of the first 5 years of a glutaric aciduria type I neonatal screening programme in Asturias.
    Elola Pastor AI; Prieto García B; Díaz Martín JJ
    An Pediatr (Engl Ed); 2024 May; 100(5):318-324. PubMed ID: 38714461
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Very long-chain acyl-CoA dehydrogenase deficiency: the effects of accidental fat loading in a patient detected through newborn screening.
    Ficicioglu C; Hussa C
    J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S187-90. PubMed ID: 19333779
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Clinical and laboratory studies on 28 patients with glutaric aciduria type 1].
    Wang Q; Ding Y; Liu Y; Li X; Wu T; Song J; Wang Y; Yang Y
    Zhonghua Er Ke Za Zhi; 2014 Jun; 52(6):415-9. PubMed ID: 25190159
    [TBL] [Abstract][Full Text] [Related]  

  • 38. The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.
    Kennedy S; Potter BK; Wilson K; Fisher L; Geraghty M; Milburn J; Chakraborty P
    BMC Pediatr; 2010 Nov; 10():82. PubMed ID: 21083904
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population.
    Wang S; Leng J; Diao C; Wang Y; Zheng R
    J Pediatr Endocrinol Metab; 2020 May; 33(6):683-690. PubMed ID: 32447334
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Teaching NeuroImages: Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency).
    Singh P; Goraya JS; Ahluwalia A; Saggar K
    Neurology; 2011 Jul; 77(1):e6. PubMed ID: 21727264
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.