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Your search keyword '"Biotinidase genetics"' showing total 74 results

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74 results on '"Biotinidase genetics"'

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51. Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.

52. [Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].

53. Profound biotinidase deficiency: a rare disease among native Swedes.

54. High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.

55. Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.

56. Analysis of mutations causing biotinidase deficiency.

57. Technical standards and guidelines for the diagnosis of biotinidase deficiency.

58. The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).

59. Differential profiling of breast cancer plasma proteome by isotope-coded affinity tagging method reveals biotinidase as a breast cancer biomarker.

60. Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.

61. High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.

62. [Gene mutation analyses in Chinese children with multiple carboxylase deficiency].

63. Three dimensional structure of human biotinidase: computer modeling and functional correlations.

64. Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.

65. [Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency].

66. Evolutionary conservation of biotinidase: implications for the enzyme's structure and subcellular localization.

67. Molecular genetics of biotin metabolism: old vitamin, new science.

68. Biotinidase: its role in biotinidase deficiency and biotin metabolism.

69. Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.

70. Successful pregnancy in a treated patient with biotinidase deficiency.

71. Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases.

72. Identification of alternatively spliced human biotinidase mRNAs and putative localization of endogenous biotinidase.

73. Biotin supply affects rates of cell proliferation, biotinylation of carboxylases and histones, and expression of the gene encoding the sodium-dependent multivitamin transporter in JAr choriocarcinoma cells.

74. Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies.

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