Chimeraplasty for gene repair in carnitine palmitoyl transferase II deficiency

被引:0
|
作者
Afifi, A
Grabowski, P
Olpin, S
Bishop, N
Dalton, A
机构
[1] Sheffield Childrens NHS Trust, Sheffield Mol Genet Serv, Sheffield, S Yorkshire, England
[2] Sheffield Childrens NHS Trust, Dept Clin Chem, Sheffield, S Yorkshire, England
[3] Univ Sheffield, Acad Unit Child Hlth, Sheffield, S Yorkshire, England
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
下载
收藏
页码:S28 / S28
页数:1
相关论文
共 50 条
  • [31] Deficiencies of carnitine palmitoyl transferase II: peculiarities in its diagnosis
    Gabaldon Pastor, D.
    Gorria Redondo, N.
    Hortiguela Saeta, M. Montesclaros
    Conejo Moreno, D.
    BOLETIN DE PEDIATRIA, 2016, 56 (237): : 195 - 197
  • [32] CARNITINE PALMITOYL TRANSFERASE DEFICIENCY WITH AN ATYPICAL PRESENTATION AND ULTRASTRUCTURAL MITOCHONDRIAL ABNORMALITIES
    CAREY, MP
    POULTON, K
    HAWKINS, C
    MURPHY, RP
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1987, 50 (08): : 1060 - 1062
  • [33] ACUTE RENAL FAILURE DUE TO CARNITINE PALMITOYL TRANSFERASE DEFICIENCY IN CHILDREN
    Fidan, Kibriya
    Kandur, Yasar
    Akcaboy, Meltem
    Isiyel, Emel
    Bakkaloglu, Sevcan A.
    Hasanoglu, Enver
    Soylemezoglu, Oguz
    PEDIATRIC NEPHROLOGY, 2012, 27 (09) : 1771 - 1772
  • [34] Labour management of a woman with carnitine palmitoyl transferase type 2 deficiency
    Slater, P. M.
    Grivell, R.
    Cyna, A. M.
    ANAESTHESIA AND INTENSIVE CARE, 2009, 37 (02) : 305 - 308
  • [35] FASTING HYPOGLYCEMIA RESULTING FROM HEPATIC CARNITINE PALMITOYL TRANSFERASE DEFICIENCY
    BOUGNERES, PF
    SAUDUBRAY, JM
    MARSAC, C
    BERNARD, O
    ODIEVRE, M
    GIRARD, J
    JOURNAL OF PEDIATRICS, 1981, 98 (05): : 742 - 746
  • [36] Manifesting heterozygosity in carnitine palmitoyl transferase II deficiency resulting from the Ser 113 Leu mutation
    Tein, I
    Sen, A
    Kaufmann, P
    McGarry, JD
    DiMauro, S
    ANNALS OF NEUROLOGY, 1997, 42 (03) : P61 - P61
  • [37] Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient
    Thuillier, L
    Sevin, C
    Demaugre, F
    Brivet, M
    Rabier, D
    Droin, V
    Aupetit, J
    Abadi, N
    Kamoun, P
    Saudubray, JM
    Bonnefont, JP
    NEUROMUSCULAR DISORDERS, 2000, 10 (03) : 200 - 205
  • [38] Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury
    Halil Tuna Akar
    Yılmaz Yıldız
    Rüya Mutluay
    Emel Tekin
    Ayşegül Tokatlı
    CEN Case Reports, 2024, 13 : 81 - 85
  • [39] Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury
    Akar, Halil Tuna
    Yildiz, Yilmaz
    Mutluay, Ruya
    Tekin, Emel
    Tokatli, Aysegul
    CEN CASE REPORTS, 2024, 13 (02) : 81 - 85
  • [40] HEPATIC AND MUSCULAR PRESENTATIONS OF CARNITINE PALMITOYL TRANSFERASE DEFICIENCY - 2 DISTINCT ENTITIES
    DEMAUGRE, F
    BONNEFONT, JP
    MITCHELL, G
    NAM, NH
    PELET, A
    RIMOLDI, M
    DIDONATO, S
    SAUDUBRAY, JM
    PEDIATRIC RESEARCH, 1988, 24 (03) : 308 - 311