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 *

143 related articles for article (PubMed ID: 7916155)

  • 1. Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant).
    Chadefaux-Vekemans B; Rolland MO; Lyonnet S; Rabier D; Divry P; Kamoun P
    Prenat Diagn; 1994 May; 14(5):417-8. PubMed ID: 7916155
    [No Abstract]   [Full Text] [Related]  

  • 2. Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases.
    Biancheri R; Cerone R; Schiaffino MC; Caruso U; Veneselli E; Perrone MV; Rossi A; Gatti R
    Neuropediatrics; 2001 Feb; 32(1):14-22. PubMed ID: 11315197
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia.
    Mamlok RJ; Isenberg JN; Rassin DK; Norcross K; Tallan HH
    Neuropediatrics; 1986 May; 17(2):94-9. PubMed ID: 2873525
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.
    Suormala T; Baumgartner MR; Coelho D; Zavadakova P; Kozich V; Koch HG; Berghaüser M; Wraith JE; Burlina A; Sewell A; Herwig J; Fowler B
    J Biol Chem; 2004 Oct; 279(41):42742-9. PubMed ID: 15292234
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria.
    Merinero B; Pérez-Cerdá C; Garcia MJ; Chadefaux-Vekemans B; Kamoun P; Tonetti C; Zittoun J; Jakobs C; Ugarte M
    Prenat Diagn; 1998 Sep; 18(9):947-52. PubMed ID: 9793978
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood.
    Carmel R; Watkins D; Goodman SI; Rosenblatt DS
    N Engl J Med; 1988 Jun; 318(26):1738-41. PubMed ID: 2897628
    [No Abstract]   [Full Text] [Related]  

  • 7. Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations.
    Baumgartner ER; Wick H; Linnell JC; Gaull GE; Bachmann C; Steinmann B
    Helv Paediatr Acta; 1979; 34(5):483-96. PubMed ID: 43301
    [TBL] [Abstract][Full Text] [Related]  

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

  • 9. 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]  

  • 10. Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.
    Yamada K; Gherasim C; Banerjee R; Koutmos M
    J Biol Chem; 2015 Dec; 290(49):29155-66. PubMed ID: 26364851
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Inherited disorders of cobalamin metabolism.
    Qureshi AA; Rosenblatt DS; Cooper BA
    Crit Rev Oncol Hematol; 1994 Oct; 17(2):133-51. PubMed ID: 7818787
    [No Abstract]   [Full Text] [Related]  

  • 12. Inborn errors of cobalamin absorption and metabolism.
    Watkins D; Rosenblatt DS
    Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):33-44. PubMed ID: 21312325
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Oral vitamin B12 treatment of cobalamin-responsive methylmalonic aciduria.
    Ninan TK; Thom H; Russell G
    J Inherit Metab Dis; 1992; 15(6):939-40. PubMed ID: 1363440
    [No Abstract]   [Full Text] [Related]  

  • 14. Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase.
    Drennan CL; Matthews RG; Rosenblatt DS; Ledley FD; Fenton WA; Ludwig ML
    Proc Natl Acad Sci U S A; 1996 May; 93(11):5550-5. PubMed ID: 8643613
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and biochemical studies on Chinese patients with methylmalonic aciduria.
    Yang Y; Sun F; Song J; Hasegawa Y; Yamaguchi S; Zhang Y; Jiang Y; Qin J; Wu X
    J Child Neurol; 2006 Dec; 21(12):1020-4. PubMed ID: 17156691
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Metabolic cooperation among cell lines from patients with inborn errors of vitamin B12 metabolism: differential response of cblC and cblD.
    Byck S; Rosenblatt DS
    Clin Invest Med; 1991 Apr; 14(2):153-9. PubMed ID: 1676355
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Neonatal onset methylmalonic aciduria and homocystinuria:Biochemical and clinical improvement with betaine therapy].
    Urbón Artero A; Aldana Gómez J; Reig Del Moral C; Nieto Conde C; Merinero Cortés B
    An Esp Pediatr; 2002 Apr; 56(4):337-41. PubMed ID: 11927078
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Methionine auxotrophy in inborn errors of cobalamin metabolism.
    Garovic-Kocic V; Rosenblatt DS
    Clin Invest Med; 1992 Aug; 15(4):395-400. PubMed ID: 1516297
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.