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 *

257 related articles for article (PubMed ID: 917614)

  • 41. 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]  

  • 42. Biotin-reversible neurodegenerative disease in infancy.
    Low LC; Stephenson JB; Bartlett K; Seakins JW; Shaikh SA
    Aust Paediatr J; 1986 Feb; 22(1):65-8. PubMed ID: 3087340
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Increased excretion of lactate, glutarate, 3-hydroxyisovalerate and 3-methylglutaconate during clinical episodes of propionic acidemia.
    Kuhara T; Shinka T; Matsuo M; Matsumoto I
    Clin Chim Acta; 1982 Aug; 123(1-2):101-9. PubMed ID: 7116632
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia.
    Harris DJ; Thompson RM; Wolf B; Yang BI
    J Med Genet; 1981 Apr; 18(2):156-7. PubMed ID: 7241536
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit.
    Lamhonwah AM; Leclerc D; Loyer M; Clarizio R; Gravel RA
    Genomics; 1994 Feb; 19(3):500-5. PubMed ID: 8188292
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Immunological studies of propionyl CoA carboxylase in livers and fibroblasts of patients with propionic acidemia.
    McKeon C; Eanes RZ; Fall RR; Tasset DM; Wolf B
    Clin Chim Acta; 1980 Feb; 101(2-3):217-33. PubMed ID: 6766827
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.
    Burri BJ; Sweetman L; Nyhan WL
    Am J Hum Genet; 1985 Mar; 37(2):326-37. PubMed ID: 3920902
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Biotin-responsive in vivo carboxylase deficiency in two siblings with secretory diarrhea receiving total parenteral nutrition.
    Kien CL; Kohler E; Goodman SI; Berlow S; Hong R; Horowitz SP; Baker H
    J Pediatr; 1981 Oct; 99(4):546-50. PubMed ID: 6792336
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Evidence for the enzymic defect in beta-methylcrotonylglycinuria.
    Gompertz D; Goodey PA; Bartlett K
    FEBS Lett; 1973 May; 32(1):13-4. PubMed ID: 4715674
    [No Abstract]   [Full Text] [Related]  

  • 50. Clinical and biochemical findings on a child with multiple biotin-responsive carboxylase deficiencies.
    Narisawa K; Arai N; Igarashi Y; Satoh T; Tada K; Hirooka Y
    J Inherit Metab Dis; 1982; 5(2):67-8. PubMed ID: 6133032
    [No Abstract]   [Full Text] [Related]  

  • 51. Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase.
    Chadefaux B; Augereau C; Rabier D; Rocchiccioli F; Boué J; Oury JF; Kamoun P
    Prenat Diagn; 1988 Feb; 8(2):161-4. PubMed ID: 3362779
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.
    Baumgartner MR; Dantas MF; Suormala T; Almashanu S; Giunta C; Friebel D; Gebhardt B; Fowler B; Hoffmann GF; Baumgartner ER; Valle D
    Am J Hum Genet; 2004 Nov; 75(5):790-800. PubMed ID: 15359379
    [TBL] [Abstract][Full Text] [Related]  

  • 53. 3-Hydroxypropionic acid and methylcitric acid are not reliable indicators of marginal biotin deficiency in humans.
    Mock DM; Henrich-Shell CL; Carnell N; Stumbo P; Mock NI
    J Nutr; 2004 Feb; 134(2):317-20. PubMed ID: 14747666
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Biotin-responsive alopecia and developmental regression.
    Charles BM; Hosking G; Green A; Pollitt R; Bartlett K; Taitz LS
    Lancet; 1979 Jul; 2(8134):118-20. PubMed ID: 88555
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Fatty-acid-responsive alopecia in multiple carboxylase deficiency.
    Munnich A; Saudubray JM; Coude FX; Charpentier C; Saurat JH; Frezal J
    Lancet; 1980 May; 1(8177):1080-1. PubMed ID: 6103410
    [No Abstract]   [Full Text] [Related]  

  • 56. Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency.
    Fischer A; Munnich A; Saudubray JM; Mamas S; Coudé FX; Charpentier C; Dray F; Frézal J; Griscelli C
    J Clin Immunol; 1982 Jan; 2(1):35-8. PubMed ID: 6212592
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome.
    Baumgartner ER; Suormala TM; Wick H; Probst A; Blauenstein U; Bachmann C; Vest M
    Pediatr Res; 1989 Sep; 26(3):260-6. PubMed ID: 2587127
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency.
    Erasmus C; Mienie LJ; Reinecke CJ; Wadman SK
    J Inherit Metab Dis; 1985; 8 Suppl 2():105-6. PubMed ID: 3930851
    [No Abstract]   [Full Text] [Related]  

  • 59. Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.
    Baumgartner ER; Suormala T; Wick H; Bonjour JP
    J Inherit Metab Dis; 1984; 7 Suppl 2():123-5. PubMed ID: 6434862
    [No Abstract]   [Full Text] [Related]  

  • 60. Fatty acid transport in multiple carboxylase deficiency fibroblasts.
    Packman S; Whitney S
    J Inherit Metab Dis; 1990; 13(5):716-20. PubMed ID: 2123277
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.