Late-onset very-long-chain acyl-CoA dehydrogenase deficiency presented with rhabdomyolysis

被引：0
|
作者：
Coker, M. [1 ]
Kalkan, Ucar S. [1 ]
Habif, S. [2 ]
Yildiz, B. [1 ]
Goksen, Simske R. D. [1 ]
Darcan, S. [1 ]
Bayindir, O. [2 ]
Wanders, R. J. A. [3 ]
机构：
[1] Ege Univ Child Hosp, Div Ped Metab End, Izmir, Turkey
[2] Ege Univ Child Hosp, Div Bioch, Izmir, Turkey
[3] Univ Amst, Emma Child Hosp, Div Clin Chem Ped, Amsterdam, Netherlands
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2008年 / 31卷
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：
122-P
引用
收藏
页码：32 / 32
页数：1
相关论文
共 50 条
  • [41] Late-onset multiple acyl-CoA dehydrogenase deficiency:: A frequently missed diagnosis?
    Koeppel, S.
    Gottschalk, J.
    Hoffmann, G. F.
    Waterham, H. R.
    Blobel, H.
    Koelker, S.
    NEUROLOGY, 2006, 67 (08) : 1519 - 1519
  • [42] Not motoneuron disease - a case of late-onset multiple acyl-CoA dehydrogenase deficiency
    Merkel, C.
    Boy, N.
    Kappes-Horn, K.
    Reimann, J.
    NEUROMUSCULAR DISORDERS, 2015, 25 : S203 - S204
  • [43] Obesity, tumors, and arrhythmias in very-long-chain acyl-CoA dehydrogenase deficinet mice
    Exil, V
    Sims, H
    Zimmerman, F
    Strauss, AW
    CIRCULATION, 2000, 102 (18) : 376 - 376
  • [44] Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes
    Bleeker, Jeannette C.
    Kok, Irene L.
    Ferdinandusse, Sacha
    van der Pol, W. Ludo
    Cuppen, Inge
    Bosch, Annet M.
    Langeveld, Mirjam
    Derks, Terry G. J.
    Williams, Monique
    de Vries, Maaike
    Mulder, Margot F.
    Gozalbo, Estela R.
    de Sain-van der Velden, Monique G. M.
    Rennings, Alexander J.
    Schielen, Peter J. C. I.
    Dekkers, Eugenie
    Houtkooper, Riekelt H.
    Waterham, Hans R.
    Pras-Raves, Mia L.
    Wanders, Ronald J. A.
    van Hasselt, Peter M.
    Schoenmakers, Marja
    Wijburg, Frits A.
    Visser, Gepke
    JOURNAL OF INHERITED METABOLIC DISEASE, 2019, 42 (03) : 414 - 423
  • [45] HOW FAR SHOULD WE GO IN THE INVESTIGATION OF VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (VLCADD)?
    Schiff, M.
    Karunanidhi, A.
    Yeasted, R.
    Mohsen, A.-W.
    Vockley, J.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S70 - S70
  • [46] Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype
    Scholte, HR
    Van Coster, RNA
    de Jonge, PC
    Poorthuis, BJHM
    Jeneson, JAL
    Andresen, BS
    Gregersen, N
    de Klerk, JBC
    Busch, HFM
    NEUROMUSCULAR DISORDERS, 1999, 9 (05) : 313 - 319
  • [47] Molecular, biochemical and clinical heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency in the Canadian Maritime Provinces
    Gillis, Jane
    Skidmore, David
    McDonald, Heather
    Farrel, Joan
    Chapman, Maggie
    Kureshi, Nelofar
    Dyack, Sarah
    CLINICAL BIOCHEMISTRY, 2014, 47 (15) : 147 - 147
  • [48] Pitfalls of neonatal screening for very-long-chain acyl-COA dehydrogenase deficiency using tandem mass spectrometry
    Schymik, Ina
    Liebig, Michaela
    Mueller, Martina
    Wendel, Udo
    Mayatepek, Ertan
    Strauss, Arnold W.
    Wanders, Ronald J. A.
    Spiekerkoetter, Ute
    JOURNAL OF PEDIATRICS, 2006, 149 (01): : 128 - 130
  • [49] Tissue Carnitine Homeostasis in Very-Long-Chain Acyl-CoA Dehydrogenase–Deficient Mice
    Ute Spiekerkoetter
    Chonan Tokunaga
    Udo Wendel
    Ertan Mayatepek
    Lodewijk Ijlst
    Frederic M Vaz
    Naomi Van Vlies
    Henk Overmars
    Marinus Duran
    Frits A Wijburg
    Ronald J Wanders
    Arnold W Strauss
    Pediatric Research, 2005, 57 : 760 - 764
  • [50] Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death
    Mathur, A
    Sims, HF
    Gopalakrishnan, D
    Gibson, B
    Rinaldo, P
    Vockley, J
    Hug, G
    Strauss, AW
    CIRCULATION, 1999, 99 (10) : 1337 - 1343
12345