FATAL CARDIOMYOPATHY ASSOCIATED WITH 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY

被引：33
|
作者：
GIBSON, KM
CASSIDY, SB
SEAVER, LH
WANDERS, RJA
KENNAWAY, NG
MITCHELL, GA
SPARK, RP
机构：
[1] BAYLOR UNIV,MED CTR,KIMBERLY H COURTWRIGHT & JOSEPH W SUMMERS METAB D,DALLAS,TX
[2] UNIV ARIZONA,COLL MED,HLTH SCI CTR,DEPT PEDIAT,TUCSON,AZ
[3] UNIV HOSP AMSTERDAM,ACAD MED CTR,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
[4] OREGON HLTH SCI UNIV,DEPT MOLEC & MED GENET,PORTLAND,OR 97201
[5] HOP ST JUSTINE,DEPT PEDIAT & BIOCHEM,MONTREAL H3T 1C5,PQ,CANADA
[6] HOP ST JUSTINE,MED GENET SERV,MONTREAL H3T 1C5,PQ,CANADA
[7] UNIV ARIZONA,COLL MED,CTR HLTH SCI,DEPT PATHOL,TUCSON,AZ
[8] TUCSON MED CTR,DEPT PATHOL,TUCSON,AZ
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 1994年 / 17卷 / 03期
关键词：
D O I：
10.1007/BF00711810
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
[No abstract available]
引用
收藏
页码：291 / 294
页数：4
相关论文
共 50 条
  • [1] 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY
    WALTER, JH
    CLAYTON, PT
    LEONARD, JV
    JOURNAL OF INHERITED METABOLIC DISEASE, 1986, 9 (03) : 287 - 288
  • [2] 3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) Lyase Deficiency
    Ustkoyuncu, Pembe Soylu
    Kendirci, Mustafa
    Gokay, Songul
    Kardas, Fatih
    ERCIYES MEDICAL JOURNAL, 2018, 40 (03) : 169 - 171
  • [3] 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy
    Bischof, F
    Nägele, T
    Wanders, RJA
    Trefz, FK
    Melms, A
    ANNALS OF NEUROLOGY, 2004, 56 (05) : 727 - 730
  • [4] Human 3-hydroxy-3-methylglutaryl-CoA lyase
    Miziorko, HM
    Narasimhan, C
    Roberts, JR
    BRANCHED-CHAIN AMINO ACIDS, PT B, 2000, 324 : 150 - 161
  • [5] ASSAY OF 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE
    GIBSON, KM
    METHODS IN ENZYMOLOGY, 1988, 166 : 219 - 225
  • [6] 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in a boy with VATER association
    Al-Essa, M
    Rashed, M
    Ozand, PT
    JOURNAL OF INHERITED METABOLIC DISEASE, 1998, 21 (04) : 443 - 444
  • [7] The Management of Pregnancy and Delivery in 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
    Pipitone, Angela
    Raval, Donna B.
    Duis, Jessica
    Vernon, Hilary
    Martin, Regina
    Hamosh, Ada
    Valle, David
    Gunay-Aygun, Meral
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (06) : 1600 - 1602
  • [8] A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
    Pie, J
    Casals, N
    Casale, CH
    Buesa, C
    Mascaro, C
    Barcelo, A
    Rolland, MO
    Zabot, T
    Haro, D
    Eyskens, F
    Divry, P
    Hegardt, FG
    BIOCHEMICAL JOURNAL, 1997, 323 : 329 - 335
  • [9] Pseudomonas mevalonii 3-hydroxy-3-methylglutaryl-CoA lyase
    Miziorko, HM
    Narasimhan, C
    BRANCHED-CHAIN AMINO ACIDS, PT B, 2000, 324 : 139 - 149
  • [10] SUDDEN-DEATH IN AN INFANT WITH 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY
    RIBES, A
    BRIONES, P
    VILASECA, MA
    BARAIBAR, R
    GAIRI, JM
    JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (05) : 752 - 753
12345