BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 759179)

  • 21. Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome".
    Hillman RE; Keating JP
    Pediatrics; 1974 Feb; 53(2):221-5. PubMed ID: 4812006
    [No Abstract]   [Full Text] [Related]  

  • 22. An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis.
    Daum RS; Scriver CR; Mamer OA; Delvin E; Lamm P; Goldman H
    Pediatr Res; 1973 Mar; 7(3):149-60. PubMed ID: 4690360
    [No Abstract]   [Full Text] [Related]  

  • 23. [Biotin deficiency in the germ-free rat and propionic acidemia].
    Cherruau B; Sacquet E; Mangeot M; Demelier JF; Lemonnier A
    Ann Nutr Metab; 1983; 27(1):48-56. PubMed ID: 6830142
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism.
    Zschocke J; Ruiter JP; Brand J; Lindner M; Hoffmann GF; Wanders RJ; Mayatepek E
    Pediatr Res; 2000 Dec; 48(6):852-5. PubMed ID: 11102558
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.
    Su L; Li X; Lin R; Sheng H; Feng Z; Liu L
    Metab Brain Dis; 2017 Dec; 32(6):2063-2071. PubMed ID: 28875337
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.
    Poll-The BT; Wanders RJ; Ruiter JP; Ofman R; Majoie CB; Barth PG; Duran M
    Mol Genet Metab; 2004 Apr; 81(4):295-9. PubMed ID: 15059617
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Excretion of 2-methyl-3-oxovaleric acid in propionic acidemia.
    Lehnert W; Schuchmann L; Urbánek R; Niederhoff H; Böhm N
    Eur J Pediatr; 1978 Jul; 128(3):197-205. PubMed ID: 668727
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Acute neonatal nonketotic hyperglycinemia: normal propionate and methylmalonate metabolism.
    Baumgartner ER; Bachmann C; Brechbühler T; Wick H
    Pediatr Res; 1975 Jul; 9(7):559-64. PubMed ID: 240144
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver.
    Revsin B; Lebowitz J; Morrow G
    Pediatr Res; 1977 Jun; 11(6):749-53. PubMed ID: 17092
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients.
    Lehnert W; Sperl W; Suormala T; Baumgartner ER
    Eur J Pediatr; 1994; 153(7 Suppl 1):S68-80. PubMed ID: 7957390
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism.
    Burlina AB; Gibson KM; Ruitenbeek W; Bonafè L; Bennett MJ
    J Inherit Metab Dis; 1998 Dec; 21(8):864-6. PubMed ID: 9870212
    [No Abstract]   [Full Text] [Related]  

  • 32. Metabolic annotation of 2-ethylhydracrylic acid.
    Ryan RO
    Clin Chim Acta; 2015 Aug; 448():91-7. PubMed ID: 26115894
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.
    Gravel RA; Lam KF; Scully KJ; Hsia Y
    Am J Hum Genet; 1977 Jul; 29(4):378-88. PubMed ID: 195466
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A study of the ultrastructure of the organs and of cultured fibroblasts incubated with isoleucine from a patient with propionic acidemia.
    Kott-Blumenkranz R; Pappas CT; Bensch KG
    Hum Pathol; 1981 Dec; 12(12):1141-8. PubMed ID: 7333577
    [No Abstract]   [Full Text] [Related]  

  • 35. A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency.
    Gibson KM; Lee CF; Kamali V; Søvik O
    Clin Chim Acta; 1992 Jan; 205(1-2):127-35. PubMed ID: 1355701
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [Effects of propionic acid metabolic precursors in biotin-deprived rats].
    Cherruau B; Mangeot M; Demelier JF; Charpentier C; Pelletier C; Lemonnier A
    Nutr Metab; 1980; 24(6):367-82. PubMed ID: 7219898
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Neurologic nonmetabolic presentation of propionic acidemia.
    Nyhan WL; Bay C; Beyer EW; Mazi M
    Arch Neurol; 1999 Sep; 56(9):1143-7. PubMed ID: 10488817
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS.
    Bennett MJ; Powell S; Swartling DJ; Gibson KM
    Clin Chem; 1994 Oct; 40(10):1879-83. PubMed ID: 7923765
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Identification of the insertion/deletion mutation in Spanish beta-propionyl-CoA carboxylase-deficient patients.
    Pérez-Cerdá C; Rodríguez-Pombo P; Ugarte M
    J Inherit Metab Dis; 1994; 17(6):661-3. PubMed ID: 7707688
    [No Abstract]   [Full Text] [Related]  

  • 40. [Neonatal onset of organic acidemia (propionic) diagnosed by tandem mass spectrometry].
    Cifuentes Y; De la Hoz I; Bermúdez M; Arteaga C
    Biomedica; 2008 Mar; 28(1):10-7. PubMed ID: 18645657
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.