Primary carnitine deficiency (PCD) as a novel cause of hereditary recurrent myoglobinuria.

被引:0
作者
Invernizzi, F [1 ]
Garavaglia, B [1 ]
Mora, M [1 ]
Antozzi, C [1 ]
Taroni, F [1 ]
机构
[1] Ist Nazl Neurol C Besta, Milan, Italy
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
1323
引用
收藏
页码:A238 / A238
页数:1
相关论文
共 50 条
[21]   CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - A NEW CAUSE OF RECURRENT PANCREATITIS [J].
TEIN, I ;
CHRISTODOULOU, J ;
DONNER, E ;
MCINNES, RR .
JOURNAL OF PEDIATRICS, 1994, 124 (06) :938-940
[22]   LIPOID MYOPATHY WITH RECURRENT MYOGLOBINURIA DUE TO CARNITINE PALMITOYL-TRANSFERASE A DEFICIENCY IN SKELETAL-MUSCLE MITOCHONDRIA [J].
HOSTETLER, KY ;
HOPPEL, CL ;
RAMINE, JS ;
SIPE, JC ;
GROSS, S ;
HIGGINBOTTOM, P .
CLINICAL RESEARCH, 1977, 25 (03) :A496-A496
[23]   NOVEL MUTATIONS IN TURKISH PATIENTS WITH PRIMARY CARNITINE DEFICIENCY [J].
Kilic, M. ;
Ozgul, R. K. ;
Yucel, D. ;
Karaca, M. ;
Dursun, A. ;
Sivri, H. S. ;
Tokatli, A. ;
Sahin, M. ;
Karagoz, T. ;
Coskun, T. .
JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 :S57-S57
[24]   Carnitine Palmitoyl Transferase Deficiency - Unrecognized Cause of Recurrent Acute Kidney Injury [J].
Aleckovic-Halilovic, Mirna ;
Mesic, Enisa ;
Sinanovic, Osman ;
Zukic, Sanela ;
Mustedanagic, Jasminka .
RENAL FAILURE, 2013, 35 (05) :732-734
[25]   Primary Carnitine Deficiency as a Treatable Cause of Heart Failure in Young Patients [J].
Kayikcioglu, Meral ;
Ozbay, Benay ;
Yagmur, Burcu ;
Canda, Ebru ;
Bayraktaroglu, Selen ;
Simsek, Evrim ;
Ucar, Sema Kalkan .
TURK KARDIYOLOJI DERNEGI ARSIVI-ARCHIVES OF THE TURKISH SOCIETY OF CARDIOLOGY, 2022, 50 (07) :535-539
[26]   Primary carnitine deficiency as a cause of metabolic leukoencephalopathy: Report of one case [J].
Mahale, Rohan R. ;
Mehta, Anish ;
Timmappaya, A. ;
Srinivasa, Rangasetty .
NEUROLOGY INDIA, 2016, 64 (01) :166-168
[27]   Primary Carnitine Deficiency – A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly [J].
Shivani Deswal ;
Sunita Bijarnia-Mahay ;
Vinamr Manocha ;
Keiichi Hara ;
Yosuke Shigematsu ;
Renu Saxena ;
Ishwar C. Verma .
The Indian Journal of Pediatrics, 2017, 84 :83-85
[28]   Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly [J].
Deswal, Shivani ;
Bijarnia-Mahay, Sunita ;
Manocha, Vinamr ;
Hara, Keiichi ;
Shigematsu, Yosuke ;
Saxena, Renu ;
Verma, Ishwar C. .
INDIAN JOURNAL OF PEDIATRICS, 2017, 84 (01) :83-85
[29]   Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases [J].
Kilfoyle, Dean ;
Hutchinson, David ;
Potter, Howard ;
George, Peter .
NEW ZEALAND MEDICAL JOURNAL, 2005, 118 (1210)
[30]   Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype [J].
Shibbani, K. ;
Fahed, A. C. ;
Al-Shaar, L. ;
Arabi, M. ;
Nemer, G. ;
Bitar, F. ;
Majdalani, M. .
CLINICAL GENETICS, 2014, 85 (02) :127-137