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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

473 related items for PubMed ID: 19836982

  • 1. Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
    Weisfeld-Adams JD, Morrissey MA, Kirmse BM, Salveson BR, Wasserstein MP, McGuire PJ, Sunny S, Cohen-Pfeffer JL, Yu C, Caggana M, Diaz GA.
    Mol Genet Metab; 2010 Feb; 99(2):116-23. PubMed ID: 19836982
    [Abstract] [Full Text] [Related]

  • 2. Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
    Reischl-Hajiabadi AT, Schnabel E, Gleich F, Mengler K, Lindner M, Burgard P, Posset R, Lommer-Steinhoff S, Grünert SC, Thimm E, Freisinger P, Hennermann JB, Krämer J, Gramer G, Lenz D, Christ S, Hörster F, Hoffmann GF, Garbade SF, Kölker S, Mütze U.
    J Inherit Metab Dis; 2024 Jul; 47(4):674-689. PubMed ID: 38563533
    [Abstract] [Full Text] [Related]

  • 3. Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).
    Heil SG, Hogeveen M, Kluijtmans LA, van Dijken PJ, van de Berg GB, Blom HJ, Morava E.
    J Inherit Metab Dis; 2007 Oct; 30(5):811. PubMed ID: 17768669
    [Abstract] [Full Text] [Related]

  • 4. Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
    Carrillo-Carrasco N, Chandler RJ, Venditti CP.
    J Inherit Metab Dis; 2012 Jan; 35(1):91-102. PubMed ID: 21748409
    [Abstract] [Full Text] [Related]

  • 5. Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.
    Wang F, Han L, Yang Y, Gu X, Ye J, Qiu W, Zhang H, Zhang Y, Gao X, Wang Y.
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S435-42. PubMed ID: 20924684
    [Abstract] [Full Text] [Related]

  • 6. Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.
    Han B, Cao Z, Tian L, Zou H, Yang L, Zhu W, Liu Y.
    Brain Dev; 2016 May; 38(5):491-7. PubMed ID: 26563984
    [Abstract] [Full Text] [Related]

  • 7. Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene.
    Chang JT, Chen YY, Liu TT, Liu MY, Chiu PC.
    Pediatr Neonatol; 2011 Aug; 52(4):223-6. PubMed ID: 21835369
    [Abstract] [Full Text] [Related]

  • 8. Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.
    Froese DS, Zhang J, Healy S, Gravel RA.
    Mol Genet Metab; 2009 Dec; 98(4):338-43. PubMed ID: 19700356
    [Abstract] [Full Text] [Related]

  • 9. Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
    Morel CF, Lerner-Ellis JP, Rosenblatt DS.
    Mol Genet Metab; 2006 Aug; 88(4):315-21. PubMed ID: 16714133
    [Abstract] [Full Text] [Related]

  • 10. PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
    Cavicchi C, Oussalah A, Falliano S, Ferri L, Gozzini A, Gasperini S, Motta S, Rigoldi M, Parenti G, Tummolo A, Meli C, Menni F, Furlan F, Daniotti M, Malvagia S, la Marca G, Chery C, Morange PE, Tregouet D, Donati MA, Guerrini R, Guéant JL, Morrone A.
    Clin Epigenetics; 2021 Jul 02; 13(1):137. PubMed ID: 34215320
    [Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias.
    Al-Dirbashi OY, McIntosh N, Chakraborty P.
    J Med Screen; 2017 Jun 02; 24(2):58-61. PubMed ID: 27216769
    [Abstract] [Full Text] [Related]

  • 14. Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
    Wu SN, E HS, Yu Y, Ling SY, Liang LL, Qiu WJ, Zhang HW, Shuai RX, Wei HY, Yang CJ, Xu P, Chen XG, Zou H, Feng JZ, Niu TT, Hu HL, Zhang KC, Lu DY, Gong ZW, Zhan X, Ji WJ, Gu XF, Chen YX, Han LS.
    World J Pediatr; 2024 Aug 02; 20(8):848-858. PubMed ID: 38070096
    [Abstract] [Full Text] [Related]

  • 15. Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type.
    Chen T, Liang L, Zhang H, Ye J, Qiu W, Xiao B, Zhu H, Wang L, Xu F, Gong Z, Gu X, Han L.
    Orphanet J Rare Dis; 2021 Mar 10; 16(1):125. PubMed ID: 33691766
    [Abstract] [Full Text] [Related]

  • 16. [Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].
    Huang Z, Han LS, Ye J, Qiu WJ, Zhang HW, Gao XL, Wang Y, Ji WJ, Li XY, Gu XF.
    Zhonghua Er Ke Za Zhi; 2013 Mar 10; 51(3):194-8. PubMed ID: 23751581
    [Abstract] [Full Text] [Related]

  • 17. A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China.
    Wang X, Sun W, Yang Y, Jia J, Li C.
    J Neurol Sci; 2012 Jul 15; 318(1-2):155-9. PubMed ID: 22560872
    [Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders.
    Gaillard MC, Matthieu JM, Borruat FX.
    Klin Monbl Augenheilkd; 2008 May 15; 225(5):491-4. PubMed ID: 18454408
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 24.