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 *

166 related articles for article (PubMed ID: 116077)

  • 1. Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia.
    Duran M; Bruinvis L; Ketting D; Wadman SK
    J Inherit Metab Dis; 1978; 1(3):105-7. PubMed ID: 116077
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Methylmalonic/beta-hydroxy-n-valeric aciduria due to methylmalonyl-CoA mutase deficiency.
    Goodman SI; McCabe ER; Fennessey PV; Miles BS; Mace JW; Jellum E
    Clin Chim Acta; 1978 Aug; 87(3):441-9. PubMed ID: 28187
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mild form of methylmalonic aciduria misdiagnosed as propionic acidaemia during a ketotic crisis.
    de Almeida IT; Duran M; Silva MF; Portela R; Cabral A; Tasso T; Eusébio F; Silveira C
    J Inherit Metab Dis; 1991; 14(2):259-62. PubMed ID: 1886409
    [No Abstract]   [Full Text] [Related]  

  • 4. The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia.
    Duran M; Bruinvis L; Ketting D; Kamerling JP; Wadman SK; Schutgens RB
    Biomed Mass Spectrom; 1982 Jan; 9(1):1-5. PubMed ID: 7059658
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels.
    Przyrembel H; Bremer HJ; Duran M; Bruinvis L; Ketting D; Wadman SK; Baumgartner R; Irle U; Bachmann C
    Eur J Pediatr; 1979 Jan; 130(1):1-14. PubMed ID: 759179
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Methylmalonic acidemia.
    Cohen JJ
    Kidney Int; 1979 Mar; 15(3):311-20. PubMed ID: 41966
    [No Abstract]   [Full Text] [Related]  

  • 7. Methylmalonic acidaemia due to mutase apoenzyme defect: responsive to vitamin B12 in intact fibroblasts but not in vivo.
    Baumgartner R; Giardini O; Cantani A; Sabetta G; Castro M
    J Inherit Metab Dis; 1982; 5(3):137-41. PubMed ID: 6133033
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [The neonatal acute form of methylmalonic acidemia. Report of 2 clinical cases].
    Giardini O; Marzetti G; Lubrano R; Laurenti F; Martino F; Mannarino O; D'Eufemia P; Ruberto U
    Minerva Pediatr; 1980 Sep; 32(17):1039-46. PubMed ID: 6109233
    [No Abstract]   [Full Text] [Related]  

  • 9. Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups.
    Roe CR; Hoppel CL; Stacey TE; Chalmers RA; Tracey BM; Millington DS
    Arch Dis Child; 1983 Nov; 58(11):916-20. PubMed ID: 6651329
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Methylmalonic aciduria and propionic acidaemia studied by proton nuclear magnetic resonance spectroscopy.
    Iles RA; Chalmers RA; Hind AJ
    Clin Chim Acta; 1986 Dec; 161(2):173-89. PubMed ID: 3802528
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Methylmalonic aciduria. Classification, diagnosis and therapy (author's transl)].
    Leupold D
    Klin Wochenschr; 1977 Jan; 55(2):57-63. PubMed ID: 319293
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Methylmalonic acidemia].
    Ohura T
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):579-84. PubMed ID: 2908397
    [No Abstract]   [Full Text] [Related]  

  • 13. [Carnitine in the treatment of methylmalonic aciduria (MMA)].
    Penn D; Schmidt H; Otten A; Schmidt-Sommerfeld E
    Monatsschr Kinderheilkd; 1986 Oct; 134(10):758-61. PubMed ID: 2879226
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Methylcitric acid determination in amniotic fluid by electron-impact mass fragmentography.
    Kretschmer RE; Bachmann C
    J Clin Chem Clin Biochem; 1988 May; 26(5):345-8. PubMed ID: 3404093
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Recent advances in the inherited methylmalonic acidemias.
    Mahoney MJ; Bick D
    Acta Paediatr Scand; 1987 Sep; 76(5):689-96. PubMed ID: 2889315
    [TBL] [Abstract][Full Text] [Related]  

  • 16. First trimester diagnosis of methylmalonic aciduria.
    Fowler B; Giles L; Sardharwalla IB; Donnai P; Clayton JK
    Prenat Diagn; 1988 Mar; 8(3):207-13. PubMed ID: 2897685
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies.
    Gregg AR; Warman AW; Thorburn DR; O'Brien WE
    J Inherit Metab Dis; 1998 Jun; 21(4):382-90. PubMed ID: 9700595
    [TBL] [Abstract][Full Text] [Related]  

  • 18. B12-unresponsive methylmalonic aciduria in a female infant.
    Vecchio F; Carnevale F; Paganetti G; di Bitonto G; Penza R; Francioso G
    J Inherit Metab Dis; 1980; 3(3):91-2. PubMed ID: 6775146
    [No Abstract]   [Full Text] [Related]  

  • 19. Excretion pattern of branched-chain amino acid metabolites during the course of acute infections in a patient with methylmalonic acidaemia.
    Kølvraa S; Gregersen N; Christensen E; Rasmussen K
    J Inherit Metab Dis; 1980; 3(3):63-6. PubMed ID: 6775138
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [A molecular study of methylmalonic aciduria: structure-function correlations].
    Rosenblatt DS; Ledley FD
    Bull Acad Natl Med; 1996 Oct; 180(7):1553-63; discussion 1563-4. PubMed ID: 9102141
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.