BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

152 related articles for article (PubMed ID: 30651581)

  • 1. Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations.
    Liu Y; Kang L; Li D; Jin Y; Song J; Li H; Wang J; Yang Y
    J Hum Genet; 2019 Apr; 64(4):305-312. PubMed ID: 30651581
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.
    Pillai NR; Miller D; Pierpont EI; Berry SA; Aggarwal A
    Am J Med Genet A; 2021 Jun; 185(6):1870-1874. PubMed ID: 33729671
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B
    Fettelschoss V; Burda P; Sagné C; Coelho D; De Laet C; Lutz S; Suormala T; Fowler B; Pietrancosta N; Gasnier B; Bornhauser B; Froese DS; Baumgartner MR
    J Biol Chem; 2017 Jul; 292(28):11980-11991. PubMed ID: 28572511
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.
    Kim JC; Lee NC; Hwu PW; Chien YH; Fahiminiya S; Majewski J; Watkins D; Rosenblatt DS
    Mol Genet Metab; 2012 Dec; 107(4):664-8. PubMed ID: 23141461
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [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]  

  • 6. Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
    Huemer M; Bürer C; Ješina P; Kožich V; Landolt MA; Suormala T; Fowler B; Augoustides-Savvopoulou P; Blair E; Brennerova K; Broomfield A; De Meirleir L; Gökcay G; Hennermann J; Jardine P; Koch J; Lorenzl S; Lotz-Havla AS; Noss J; Parini R; Peters H; Plecko B; Ramos FJ; Schlune A; Tsiakas K; Zerjav Tansek M; Baumgartner MR
    J Inherit Metab Dis; 2015 Sep; 38(5):957-67. PubMed ID: 25526710
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.
    Couce ML; Bóveda MD; Castiñeiras DE; Corrales FJ; Mora MI; Fraga JM; Mudd SH
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S233-9. PubMed ID: 18500573
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders.
    Leclerc D; Campeau E; Goyette P; Adjalla CE; Christensen B; Ross M; Eydoux P; Rosenblatt DS; Rozen R; Gravel RA
    Hum Mol Genet; 1996 Dec; 5(12):1867-74. PubMed ID: 8968737
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Association between decreased vitamin levels and MTHFR, MTR and MTRR gene polymorphisms as determinants for elevated total homocysteine concentrations in pregnant women.
    Barbosa PR; Stabler SP; Machado AL; Braga RC; Hirata RD; Hirata MH; Sampaio-Neto LF; Allen RH; Guerra-Shinohara EM
    Eur J Clin Nutr; 2008 Aug; 62(8):1010-21. PubMed ID: 17522601
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Inherited defects of cobalamin metabolism.
    Watkins D; Rosenblatt DS
    Vitam Horm; 2022; 119():355-376. PubMed ID: 35337626
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Association between the 2756A> G variant in the gene encoding methionine synthase and myocardial infarction in Tunisian patients.
    Jemaa R; Achouri A; Kallel A; Ben Ali S; Mourali S; Feki M; Elasmi M; Taieb SH; Sanhaji H; Omar S; Mechmeche R; Kaabachi N
    Clin Chem Lab Med; 2008; 46(10):1364-8. PubMed ID: 18844488
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency.
    Wilson A; Leclerc D; Saberi F; Campeau E; Hwang HY; Shane B; Phillips JA; Rosenblatt DS; Gravel RA
    Am J Hum Genet; 1998 Aug; 63(2):409-14. PubMed ID: 9683607
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
    Wang W; Yang J; Xue J; Mu W; Zhang X; Wu W; Xu M; Gong Y; Liu Y; Zhang Y; Xie X; Gu W; Bai J; Cram DS
    BMC Med Genet; 2019 Jan; 20(1):3. PubMed ID: 30612563
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).
    Takeichi T; Hsu CK; Yang HS; Chen HY; Wong TW; Tsai WL; Chao SC; Lee JY; Akiyama M; Simpson MA; McGrath JA
    Br J Dermatol; 2015 Apr; 172(4):1111-5. PubMed ID: 25234635
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.
    Fofou-Caillierez MB; Mrabet NT; Chéry C; Dreumont N; Flayac J; Pupavac M; Paoli J; Alberto JM; Coelho D; Camadro JM; Feillet F; Watkins D; Fowler B; Rosenblatt DS; Guéant JL
    Hum Mol Genet; 2013 Nov; 22(22):4591-601. PubMed ID: 23825108
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical Application of LC-MS/MS in the Follow-Up for Treatment of Children with Methylmalonic Aciduria.
    Wang Y; Sun Y; Jiang T
    Adv Ther; 2019 Jun; 36(6):1304-1313. PubMed ID: 31049874
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls.
    Vaisbich MH; Braga A; Gabrielle M; Bueno C; Piazzon F; Kok F
    Pediatr Nephrol; 2017 Jun; 32(6):1089-1092. PubMed ID: 28210839
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry.
    Turgeon CT; Magera MJ; Cuthbert CD; Loken PR; Gavrilov DK; Tortorelli S; Raymond KM; Oglesbee D; Rinaldo P; Matern D
    Clin Chem; 2010 Nov; 56(11):1686-95. PubMed ID: 20807894
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Serum cobalamin, urine methylmalonic acid, and plasma total homocysteine concentrations in Border Collies and dogs of other breeds.
    Lutz S; Sewell AC; Bigler B; Riond B; Reusch CE; Kook PH
    Am J Vet Res; 2012 Aug; 73(8):1194-9. PubMed ID: 22849680
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience.
    Burlina A; Giuliani A; Polo G; Gueraldi D; Gragnaniello V; Cazzorla C; Opladen T; Hoffmann G; Blau N; Burlina AP
    Mol Genet Metab; 2021 May; 133(1):56-62. PubMed ID: 33744095
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.