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 *

155 related articles for article (PubMed ID: 10437643)

  • 41. Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.
    Hwu WL; Suzuki Y; Yang X; Li X; Chou SP; Narisawa K; Tsai WY
    J Formos Med Assoc; 2000 Feb; 99(2):174-7. PubMed ID: 10770035
    [TBL] [Abstract][Full Text] [Related]  

  • 42. [Multiple biotin-dependent carboxylase deficiencies (author's transl)].
    Munnich A; Saudubray JM; Ogier H; Coude FX; Marsac C; Roccichioli F; Labarthe JC; Cazenave C; Laugier J; Charpentier C; Frézal J
    Arch Fr Pediatr; 1981 Feb; 38(2):83-90. PubMed ID: 6112972
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency.
    von Döbeln U; Venizelos N; Westgren M; Hagenfeldt L
    J Inherit Metab Dis; 1994; 17(2):185-8. PubMed ID: 7967472
    [TBL] [Abstract][Full Text] [Related]  

  • 44. A new case of holocarboxylase synthetase deficiency.
    Briones P; Ribes A; Vilaseca MA; Rodríguez-Valcárcel G; Thuy LP; Sweetman L
    J Inherit Metab Dis; 1989; 12(3):329-30. PubMed ID: 2515377
    [No Abstract]   [Full Text] [Related]  

  • 45. Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency.
    Squires L; Betz B; Umfleet J; Kelley R
    Dev Med Child Neurol; 1997 Apr; 39(4):267-9. PubMed ID: 9183268
    [TBL] [Abstract][Full Text] [Related]  

  • 46. [Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency].
    Wang T; Ye J; Han LS; Qiu WJ; Zhang HW; Zhang YF; Gao XL; Wang Y; Gu XF
    Zhongguo Dang Dai Er Ke Za Zhi; 2009 Aug; 11(8):609-12. PubMed ID: 19695181
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Methylenetetrahydrofolate reductase deficiency: prenatal diagnosis and family studies.
    Marquet J; Chadefaux B; Bonnefont JP; Saudubray JM; Zittoun J
    Prenat Diagn; 1994 Jan; 14(1):29-33. PubMed ID: 8183835
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Multiple sulphatase deficiency: prenatal diagnosis using chorionic villi.
    Patrick AD; Young E; Ellis C; Rodeck CH
    Prenat Diagn; 1988 May; 8(4):303-6. PubMed ID: 3399483
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Prenatal diagnosis of cytochrome c oxidase deficiency by biopsy of chorionic villi.
    Ruitenbeek W; Sengers R; Albani M; Trijbels F; Janssen A; van Diggelen O; Bakkeren J
    N Engl J Med; 1988 Oct; 319(16):1095. PubMed ID: 2845269
    [No Abstract]   [Full Text] [Related]  

  • 50. Aryl sulphatase isoenzymes of chorionic villi: implications for prenatal diagnosis.
    Giles L; Cooper A; Fowler B; Sardharwalla IB; Donnai P
    Prenat Diagn; 1987 May; 7(4):245-52. PubMed ID: 2884655
    [TBL] [Abstract][Full Text] [Related]  

  • 51. [Postnatal and prenatal diagnosis of mucopolysaccharidosis type II (Hunter syndrome)].
    Zhang WM; Shi HP; Li BT; Zhao SM; Qi QW; Sun NH; Huang SZ
    Zhonghua Er Ke Za Zhi; 2006 Sep; 44(9):644-7. PubMed ID: 17217652
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Prenatal diagnosis of heterozygosis in a pregnancy at risk for Wolman's disease at the 8th week of gestation.
    Bona G; Gallina MR; Dolfin G; Iavarone A; Perona A; Zaffaroni M
    Panminerva Med; 1989; 31(4):180-2. PubMed ID: 2633108
    [TBL] [Abstract][Full Text] [Related]  

  • 53. A fluorimetric assay for succinic semialdehyde dehydrogenase activity suitable for prenatal diagnosis of the enzyme deficiency.
    Thorburn DR; Thompson GN; Howells DW
    J Inherit Metab Dis; 1993; 16(6):942-9. PubMed ID: 8127070
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.
    Morrone A; Malvagia S; Donati MA; Funghini S; Ciani F; Pela I; Boneh A; Peters H; Pasquini E; Zammarchi E
    Am J Med Genet; 2002 Jul; 111(1):10-8. PubMed ID: 12124727
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Beta-glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling.
    Van Eyndhoven HW; Ter Brugge HG; Van Essen AJ; Kleijer WJ
    Prenat Diagn; 1998 Sep; 18(9):959-62. PubMed ID: 9793981
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Two forms of biotin-responsive multiple carboxylase deficiency.
    Sweetman L
    J Inherit Metab Dis; 1981; 4(2):53-4. PubMed ID: 6790844
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency.
    Fukao T; Song XQ; Watanabe H; Hirayama K; Sakazaki H; Shintaku H; Imanaka M; Orii T; Kondo N
    Prenat Diagn; 1996 May; 16(5):471-4. PubMed ID: 8844009
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Prenatal treatment of multiple carboxylase deficiency.
    Roth KS
    Ann N Y Acad Sci; 1985; 447():263-71. PubMed ID: 3925857
    [No Abstract]   [Full Text] [Related]  

  • 59. Inborn errors of biotin metabolism.
    Nyhan WL
    Arch Dermatol; 1987 Dec; 123(12):1696-1698a. PubMed ID: 3318710
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate.
    Suzuki Y; Aoki Y; Sakamoto O; Li X; Miyabayashi S; Kazuta Y; Kondo H; Narisawa K
    Clin Chim Acta; 1996 Jul; 251(1):41-52. PubMed ID: 8814349
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.