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
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
  • [31] EPILEPTIFORM OCULAR MOVEMENTS WITH METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA
    COGAN, DG
    SCHULMAN, J
    PORTER, RJ
    MUDD, SH
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 1980, 90 (02) : 251 - 253
  • [32] HOMOCYSTINURIA WITH METHYLMALONIC ACIDURIA - 2 CASES IN A SIBSHIP
    GOODMAN, SI
    MOE, PG
    HAMMOND, KB
    MUDD, SH
    UHLENDORF, BW
    BIOCHEMICAL MEDICINE, 1970, 4 (5-6): : 500 - +
  • [33] Facial anomalies in combined methylmalonic aciduria and homocystinuria
    Cerone, R
    Schiaffino, MC
    Caruso, U
    Gatti, R
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 95 (01): : 87 - 87
  • [34] CONGENITAL DEFECT IN INTRACELLULAR COBALAMIN METABOLISM RESULTING IN HOMOCYSTINURIA AND METHYLMALONIC ACIDURIA .2. BIOCHEMICAL INVESTIGATIONS
    BAUMGARTNER, ER
    WICK, H
    LINNELL, JC
    GAULL, GE
    BACHMANN, C
    STEINMANN, B
    HELVETICA PAEDIATRICA ACTA, 1979, 34 (05) : 483 - 496
  • [35] Creatine metabolism in combined methylmalonic aciduria and homocystinuria
    Bodamer, OA
    Sahoo, T
    Beaudet, AL
    O'Brien, WE
    Bottiglieri, T
    Stöckler-Ipsiroglu, S
    Wagner, C
    Scaglia, F
    ANNALS OF NEUROLOGY, 2005, 57 (04) : 557 - 560
  • [36] Cranial Magnetic Resonance Imaging Findings in Hypotonic Infants with Cobalamin Deficiency and Combined Methylmalonic Aciduria and Homocystinuria
    Dilber, Beril
    EyuboGlu, Ilker
    KLINISCHE PADIATRIE, 2022, 234 (02): : 105 - 112
  • [37] NONDETECTABLE ELECTRORETINOGRAM IN COMBINED METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA
    TICHO, BH
    FEIST, RM
    FISHMAN, GA
    ANNALS OF OPHTHALMOLOGY, 1992, 24 (05): : 180 - 181
  • [38] NEONATAL HEMOLYTIC-UREMIC SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA DUE TO A CONGENITAL DEFECT IN INTRACELLULAR COBALAMIN METABOLISM
    CHENEL, C
    WOOD, C
    GOURRIER, E
    ZITTOUN, J
    CASADEVALL, I
    OGIER, H
    ARCHIVES FRANCAISES DE PEDIATRIE, 1993, 50 (09): : 749 - 754
  • [39] Assessment of visual function in children with methylmalonic aciduria and homocystinuria
    Ricci, D
    Pane, M
    Deodato, F
    Vasco, G
    Randò, T
    Caviglia, S
    Dionisi-Vici, C
    Mercuri, E
    NEUROPEDIATRICS, 2005, 36 (03) : 181 - 185
  • [40] Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension
    Gupta, Ambika
    Kabra, Madhulika
    Gupta, Neerja
    INDIAN JOURNAL OF PEDIATRICS, 2021, 88 (12): : 1244 - 1246