Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria

被引：39
|
作者：
Tsina, EK [1 ]
Marsden, DL [1 ]
Hansen, RM [1 ]
Fulton, AB [1 ]
机构：
[1] Childrens Hosp, Dept Ophthalmol, Boston, MA 02115 USA
来源：
ARCHIVES OF OPHTHALMOLOGY | 2005年 / 123卷 / 08期
关键词：
D O I：
10.1001/archopht.123.8.1143
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
[No abstract available]
引用
收藏
页码：1143 / 1146
页数：4
相关论文
共 50 条
  • [11] METHYLMALONIC ACIDURIA WITH HOMOCYSTINURIA
    RIBES, A
    VILASECA, MA
    BRIONES, P
    MAYA, A
    SABATER, J
    PASCUAL, P
    ALVAREZ, L
    ROS, J
    PASCUAL, EG
    JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 : 129 - 130
  • [12] ABNORMAL COBALAMIN METABOLISM IN A MEGALOBLASTIC CHILD WITH HOMOCYSTINURIA, CYSTATHIONINURIA AND METHYLMALONIC ACIDURIA
    LINNELL, JC
    MIRANDA, B
    BHATT, HR
    DOWTON, SB
    LEVY, HL
    JOURNAL OF INHERITED METABOLIC DISEASE, 1983, 6 : 137 - 139
  • [13] Hereditary defect of cobalamin metabolism (homocystinuria and methylmalonic aciduria) of juvenile onset
    Gold, R
    Bogdahn, U
    Kappos, L
    Toyka, KV
    Baumgartner, ER
    Fowler, B
    Wendel, U
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1996, 60 (01): : 107 - 108
  • [14] COBALAMIN-C MUTATION (METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA) IN ADOLESCENCE - A TREATABLE CAUSE OF DEMENTIA AND MYELOPATHY
    SHINNAR, S
    SINGER, HS
    NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (07): : 451 - 454
  • [15] Combined methylmalonic aciduria and homocystinuria
    Onal, Hasan
    Alhaj, Safa
    Ozdil, Mine
    Ozyilmaz, Isa
    Altun, Gurkan
    Aydin, Ahmet
    JOURNAL OF PEDIATRIC NEUROLOGY, 2008, 6 (01) : 72 - 75
  • [16] METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA IN A PEDIGREE
    GOODMAN, SI
    MOE, PG
    POLLAK, S
    MARKEY, SP
    OBRIEN, D
    PEDIATRIC RESEARCH, 1969, 3 (04) : 368 - &
  • [17] TRANSCOBALAMIN-II DEFICIENCY PRESENTING WITH METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA AND ABNORMAL ABSORPTION OF COBALAMIN
    BARSHOP, BA
    WOLFF, J
    NYHAN, WL
    YU, A
    PRODANOS, C
    JONES, G
    SWEETMAN, L
    LESLIE, J
    HOLM, J
    GREEN, R
    JACOBSEN, DW
    COOPER, BA
    ROSENBLATT, D
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 35 (02): : 222 - 228
  • [18] A DEFECT IN COBALAMIN (VITAMIN-B12) METABOLISM ASSOCIATED WITH HOMOCYSTINURIA AND METHYLMALONIC ACIDURIA
    WILCKEN, B
    HAMMOND, J
    SILINK, M
    PATHOLOGY, 1983, 15 (01) : 112 - 112
  • [19] PRENATAL-DIAGNOSIS OF COMBINED METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA (COBALAMIN CBLC OR CBLD MUTANT)
    CHADEFAUXVEKEMANS, B
    ROLLAND, MO
    LYONNET, S
    RABIER, D
    DIVRY, P
    KAMOUN, P
    PRENATAL DIAGNOSIS, 1994, 14 (05) : 417 - 418
  • [20] Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism
    Cerone, R
    Schiaffino, MC
    Caruso, U
    Lupino, S
    Gatti, R
    JOURNAL OF INHERITED METABOLIC DISEASE, 1999, 22 (03) : 247 - 250
12345