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 *

139 related articles for article (PubMed ID: 23546813)

  • 1. Defect of cobalamin intracellular metabolism presenting as diabetic ketoacidosis: a rare manifestation.
    Sharda S; Angurana SK; Walia M; Attri S
    JIMD Rep; 2013; 11():43-7. PubMed ID: 23546813
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis.
    Dejkhamron P; Wejapikul K; Unachak K; Sawangareetrakul P; Tanpaiboon P; Wattanasirichaigoon D
    J Pediatr Endocrinol Metab; 2016 Mar; 29(3):373-8. PubMed ID: 26581066
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant.
    Guven A; Cebeci N; Dursun A; Aktekin E; Baumgartner M; Fowler B
    Pediatr Diabetes; 2012 Sep; 13(6):e22-5. PubMed ID: 21545677
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis.
    Hwang N; Jang JH; Cho EH; Choi R; Choi SJ; Park HD
    Mol Genet Genomic Med; 2021 Nov; 9(11):e1838. PubMed ID: 34655177
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical, Biochemical and Molecular Features of a Cohort of 8 Patients with Inherited Disorders of Vitamin B12 Metabolism in a Metabolic Reference Center.
    Padeira G; Jacinto S; Ribeirinho A; Ferreira AC
    Endocr Metab Immune Disord Drug Targets; 2023 Oct; ():. PubMed ID: 37861032
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
    Liu YP; Ma YY; Wu TF; Wang Q; Li XY; Ding Y; Song JQ; Huang Y; Yang YL
    Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):410-4. PubMed ID: 22931934
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Combined methylmalonic acidemia and homocystinuria; a case report].
    Jiménez Varo I; Bueno Delgado M; Dios Fuentes E; Delgado Pecellin C; González Meneses A; Soto Moreno A; Venegas Moreno E
    Nutr Hosp; 2015 Apr; 31(4):1885-8. PubMed ID: 25795986
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism.
    Atkinson C; Miousse IR; Watkins D; Rosenblatt DS; Raiman JA
    JIMD Rep; 2014; 17():77-81. PubMed ID: 25155779
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Gene identification for the cblD defect of vitamin B12 metabolism.
    Coelho D; Suormala T; Stucki M; Lerner-Ellis JP; Rosenblatt DS; Newbold RF; Baumgartner MR; Fowler B
    N Engl J Med; 2008 Apr; 358(14):1454-64. PubMed ID: 18385497
    [TBL] [Abstract][Full Text] [Related]  

  • 12. First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type.
    Liu Y; Wang Q; Li X; Ding Y; Song J; Yang Y
    Brain Dev; 2015 Mar; 37(3):286-91. PubMed ID: 24974159
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 16(1):125. PubMed ID: 33691766
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Isovaleric acidemia presenting as diabetic ketoacidosis: a case report.
    Kılıç M; Kaymaz N; Özgül RK
    J Clin Res Pediatr Endocrinol; 2014; 6(1):59-61. PubMed ID: 24637313
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.
    Wang J; Li E; Wang L; Wang Z; Yang S; Zhou Q; Chen Q
    Int J Clin Exp Pathol; 2015; 8(8):9337-41. PubMed ID: 26464686
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.
    Zong Y; Liu N; Zhao Z; Kong X
    BMC Med Genet; 2015 Jul; 16():48. PubMed ID: 26149271
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report.
    Chen RY; Li XZ; Lin Q; Zhu Y; Shen YY; Xu QY; Zhu XM; Chen LQ; Wu HY; Chen XQ
    BMC Med Genet; 2020 Sep; 21(1):183. PubMed ID: 32957924
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Rare cause of coronary artery ectasia in children: A case report of methylmalonic acidemia with hyperhomocysteinemia.
    Juan T; Chao-Ying C; Hua-Rong L; Ling W
    Front Pediatr; 2022; 10():917734. PubMed ID: 35935352
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.