Pyruvate carboxylase deficiency

被引：12
|
作者：
Arnold, GL
Griebel, ML
Porterfield, M
Brewster, M
机构：
[1] Univ Rochester, Sch Med & Dent, Div Pediat Genet, Dept Pediat, Rochester, NY 14642 USA
[2] Univ Arkansas Med Sci, Dept Pediat, Little Rock, AR 72205 USA
[3] Arkansas Childrens Hosp, Little Rock, AR 72202 USA
[4] Univ Arkansas Med Sci, Dept Pathol, Little Rock, AR 72205 USA
来源：
CLINICAL PEDIATRICS | 2001年 / 40卷 / 09期
关键词：
D O I：
10.1177/000992280104000909
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：519 / 521
页数：3
相关论文
共 50 条
  • [1] PYRUVATE-CARBOXYLASE DEFICIENCY
    BARTLETT, K
    GHNEIM, HK
    STIRK, JH
    DALE, G
    ALBERTI, KGMM
    JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 : 74 - 78
  • [2] A Unique Case of Pyruvate Carboxylase Deficiency
    Hidalgo, Jessica
    Campoverde, Leticia
    Ortiz, Juan Fernando
    Ruxmohan, Samir
    Eissa-Garces, Ahmed
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2021, 13 (05)
  • [3] PYRUVATE-CARBOXYLASE DEFICIENCY IN TWINS
    POLLOCK, MA
    CUMBERBATCH, M
    BENNETT, MJ
    GRAY, RGF
    BRAND, M
    HYLAND, K
    CONGDON, PJ
    PITTSTUCKER, T
    GRAY, S
    JOURNAL OF INHERITED METABOLIC DISEASE, 1986, 9 (01) : 29 - 30
  • [4] An atypical form of pyruvate carboxylase deficiency
    Bonafe, L
    Burlina, AB
    Sansoni, S
    Grazian, L
    Zorzi, C
    Robinson, BH
    Zacchello, F
    RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS, 1997, 23 (06): : 1021 - 1024
  • [5] PATIENT WITH PYRUVATE-CARBOXYLASE DEFICIENCY
    VANBIERVLIET, JPGM
    WADMAN, SK
    MONNENS, LAH
    WILLEMS, JL
    PEDIATRIC RESEARCH, 1976, 10 (10) : 900 - 900
  • [6] Pyruvate carboxylase deficiency: Mechanisms, mimics and anaplerosis
    Marin-Valencia, Isaac
    Roe, Charles R.
    Pascual, Juan M.
    MOLECULAR GENETICS AND METABOLISM, 2010, 101 (01) : 9 - 17
  • [7] Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis
    Mangla, Pragya
    Gambhir, Poonam Singh
    Sudhanshu, Siddhnath
    Srivastava, Priyanka
    Rai, Archana
    Bhatia, Vijayalakshmi
    Phadke, Shubha R.
    INDIAN JOURNAL OF PEDIATRICS, 2017, 84 (12): : 959 - 960
  • [8] A novel mutation in pyruvate carboxylase deficiency type
    CLang, T. F.
    Wang, D.
    De Vivo, D. C.
    Loughrey, C. L.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 56 - 56
  • [9] Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis
    Pragya Mangla
    Poonam Singh Gambhir
    Siddhnath Sudhanshu
    Priyanka Srivastava
    Archana Rai
    Vijayalakshmi Bhatia
    Shubha R. Phadke
    The Indian Journal of Pediatrics, 2017, 84 : 959 - 960
  • [10] Mutation studies in patients with pyruvate carboxylase deficiency
    Heptinstall, L. E.
    Walter, J. H.
    Morris, A. A. M.
    Jones, S. A.
    Rahman, S.
    Besley, G. T. N.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 56 - 56
12345