METHYLMALONIC ACIDURIA - A CASE-REPORT

被引：0
|
作者：
VANDYK, JC
MEIRING, JL
PRINSLOO, JG
机构：
[1] KALAFONG HOSP,PRETORIA,SOUTH AFRICA
[2] UNIV PRETORIA,DEPT CHEM PATOL,PRETORIA,SOUTH AFRICA
来源：
SOUTH AFRICAN MEDICAL JOURNAL | 1982年 / 62卷 / 19期
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
收藏
页码：700 / 702
页数：3
相关论文
共 50 条
  • [21] Methylmalonic and propionic aciduria
    Deodato, F
    Boenzi, S
    Santorelli, FM
    Dionisi-Vici, C
    AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2006, 142C (02) : 104 - 112
  • [22] GLUTARIC ACIDURIA TYPE-I - A NEW CASE-REPORT
    YACOUB, M
    TABARKI, B
    SALEM, N
    HASSEN, A
    ABROUG, S
    HARBI, A
    ESSOUSSI, AS
    ANNALES DE PEDIATRIE, 1994, 41 (03): : 185 - 187
  • [23] METHYLMALONIC ACIDURIA IN RUSSIA
    Shekhter, O., V
    Baydakova, G., V
    Zakharova, E. Y.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S55 - S55
  • [24] METHYLMALONIC ACIDURIA IN NEWBORN
    SHIH, VE
    COULOMBE, JT
    MATIES, M
    LEVY, HL
    NEW ENGLAND JOURNAL OF MEDICINE, 1976, 295 (23): : 1320 - 1321
  • [25] BENIGN METHYLMALONIC ACIDURIA
    LEDLEY, FD
    LEVY, HL
    SHIH, VE
    BENJAMIN, R
    MAHONEY, MJ
    NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (16): : 1015 - 1018
  • [26] Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report
    Katarína Brennerová
    Martina Škopková
    Mária Ostrožlíková
    Jana Šaligová
    Juraj Staník
    Vladimír Bzdúch
    Daniela Gašperíková
    BMC Pediatrics, 21
  • [27] Combined liver-kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature
    Mc Guire, Peter J.
    Lim-Melia, Elizabeth
    Diaz, George A.
    Raymond, Kimiyo
    Larkin, Alexandra
    Wasserstein, Melissa P.
    Sansaricq, Claude
    MOLECULAR GENETICS AND METABOLISM, 2008, 93 (01) : 22 - 29
  • [28] NEONATAL HYPERAMMONEMIC ENCEPHALOPATHY INDUCED BY METHYLMALONIC ACIDURIA-RESPONSE TO CARGLUMIC ACID: CASE REPORT
    Al-Sayed, M.
    Alkhalifi, S.
    Alasmi, M.
    Al-Amoudi, M.
    Rahbeeni, Z.
    Rashed, M.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 : 80 - 80
  • [29] Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report
    Brennerova, Katarina
    Skopkova, Martina
    Ostrozlikova, Maria
    Saligova, Jana
    Stanik, Juraj
    Bzduch, Vladimir
    Gasperikova, Daniela
    BMC PEDIATRICS, 2021, 21 (01)
  • [30] SELECTIVE DEATH OF IMMATURE NEURONS IN METHYLMALONIC ACIDEMIA OF THE NEONATE - A CASE-REPORT
    SUM, JM
    TWISS, JL
    HOROUPIAN, DS
    ACTA NEUROPATHOLOGICA, 1993, 85 (02) : 217 - 221
12345