Molecular Mechanisms, Genotype-Phenotype Correlations and Patient-Specific Treatments in Inherited Metabolic Diseases

被引:0
|
作者
Pey, Angel L. L. [1 ]
机构
[1] Univ Granada, Fac Ciencias, Dept Quim Fis, Unidad Excelencia Quim Aplicada Biomed & Medioambi, Ave Fuentenueva S-N, Granada 18071, Spain
来源
JOURNAL OF PERSONALIZED MEDICINE | 2023年 / 13卷 / 01期
关键词
GALACTOSEMIA; CHAPERONES;
D O I
10.3390/jpm13010117
中图分类号
R19 [保健组织与事业(卫生事业管理)];
学科分类号
摘要
引用
收藏
页数:4
相关论文
共 50 条
  • [11] Inherited interstitial duplications of proximal 15q: Genotype-phenotype correlations.
    Browne, CE
    Bullman, HMS
    Jacobs, PA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A30 - A30
  • [12] Exploring the Genotype-Phenotype Correlations in a Child with Inherited Seizure and Thrombocytopenia by Digenic Network Analysis
    Lu, Shuanglong
    Niu, Zhixiao
    Qiao, Xiaohong
    GENES, 2024, 15 (08)
  • [13] Molecular heterogeneity of β-thalassemia mutations in Greece.: Genotype-phenotype correlations
    Sinopoulou, K
    Boussiou, M
    Karababa, P
    Papapanagiotou, E
    Hatzi, A
    Papadakis, M
    Gyparaki, M
    Papanikolaou, C
    Loutradi, A
    BRITISH JOURNAL OF HAEMATOLOGY, 1998, 102 (01) : 52 - 52
  • [14] Blue cone monochromacy: Molecular rearrangements and genotype-phenotype correlations.
    Ayyagari, R
    Bingham, EL
    Toda, Y
    Sieving, PA
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1997, 38 (04) : 3179 - 3179
  • [15] RAMEDIS - Rare metabolic diseases publishing tool for genotype-phenotype correlation
    Mischke, U
    Scholz, U
    Toepel, T
    Scheible, D
    Hofestaedt, R
    Trefz, F
    MEDINFO 2001: PROCEEDINGS OF THE 10TH WORLD CONGRESS ON MEDICAL INFORMATICS, PTS 1 AND 2, 2001, 84 : 970 - 974
  • [16] Nucleation of protein aggregation kinetics as a basis for genotype-phenotype correlations in polyglutamine diseases
    Keizo Sugaya
    Shiro Matsubara
    Molecular Neurodegeneration, 4
  • [17] Nucleation of protein aggregation kinetics as a basis for genotype-phenotype correlations in polyglutamine diseases
    Sugaya, Keizo
    Matsubara, Shiro
    MOLECULAR NEURODEGENERATION, 2009, 4
  • [18] The prevalence, visual significance, and genotype-phenotype associations of foveal hypoplasia in inherited retinal diseases
    Abuzaitoun, Rebhi
    Branham, Kari
    Schlegel, Dana
    Jayasundera, Thiran
    Fahim, Abigail T.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2021, 62 (08)
  • [19] Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa
    Danescu, S.
    Has, C.
    Senila, S.
    Ungureanu, L.
    Cosgarea, R.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2015, 29 (05) : 899 - 903
  • [20] Genetic Analysis of Inherited Leukodystrophies Genotype-Phenotype Correlations in the CSF1R Gene
    Guerreiro, Rita
    Kara, Eleanna
    Le Ber, Isabelle
    Bras, Jose
    Rohrer, Jonathan D.
    Taipa, Ricardo
    Lashley, Tammaryn
    Dupuits, Celine
    Gurunlian, Nicole
    Mochel, Fanny
    Warren, Jason D.
    Hannequin, Didier
    Sedel, Frederic
    Depienne, Christel
    Camuzat, Agnes
    Golfier, Veronique
    Du Boisgueheneuc, Foucaud
    Schottlaender, Lucia
    Fox, Nick C.
    Beck, Jonathan
    Mead, Simon
    Rossor, Martin N.
    Hardy, John
    Revesz, Tamas
    Brice, Alexis
    Houlden, Henry
    JAMA NEUROLOGY, 2013, 70 (07) : 875 - 882