نتایج جستجو برای: ii deficiency

تعداد نتایج: 709333  

Journal: :Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1999

Interveinal chlorosis induced by iron deficiency is considered to be one of the problems in rose production in greenhouses all over the world. This experiment was conducted to elucidate the capability of chlorophyll fluorescence imaging technique to recognize early iron deficiency and also determination of relationship between leaf iron concentration and leaf chlorophyll content index and photo...

2017
Diana Lehmann Leila Motlagh Dina Robaa Stephan Zierz

CPT (carnitine palmitoyltransferase) II muscle deficiency is the most common form of muscle fatty acid metabolism disorders. In contrast to carnitine deficiency, it is clinically characterized by attacks of myalgia and rhabdomyolysis without persistent muscle weakness and lipid accumulation in muscle fibers. The biochemical consequences of the disease-causing mutations are still discussed contr...

2013
Jean-Paul Bonnefont Michel Colonna Claude Cepanec Jean-Paul Leroux Jean-Marie Saudubray

Reported cases of carnitine palmitoyltransferase II (CPT II) deficiency are characterized only by a muscular symptomatology in young adults although the defect is expressed in extramuscular tissues as well as in skeletal muscle. We describe here a CPT II deficiency associating hypoketotic hypoglycemia, high plasma creatine kinase level, heart beat disorders, and sudden death in a 3-mo-old boy. ...

2007
CHARLES A. JANEWAY

In the first lecture, the development of the organs, integrity from a congenital defect such as epidermocells, and proteins responsible for the immune lysis bullosa, or to an acquired disease like eczema response was discussed. Resistance to invasive or exfoliative dermatitis. In the eye, lack of tears or infection depends upon non-specific factors as well loss of the corneal reflux can lead to...

2017
Naohiro Ikeda Shinsuke Maruyama Kanna Nakano Ryo Imakiire Yumiko Ninomiya Shunji Seki Kosuke Yanagimoto Yasuyuki Kakihana Keiichi Hara Go Tajima Yasuhiro Okamoto Yoshifumi Kawano

The early-onset form of carnitine palmitoyltransferase (CPT) II deficiency has severe outcomes; patients typically die during the newborn period. We report a case of neonatal-onset CPT II deficiency with prolonged survival, exceeding 24 months. The patient was successfully treated by continuous hemodialysis (CHD), which enabled her to overcome repeated crises. We suggest that early intensive tr...

Journal: :The Yale Journal of Biology and Medicine 1981
C. A. Hall

Congenital deficiencies of Transcobalamin II (TC II) and R binders of vitamin B12 (B12, cobalamin, Cbl) have been described in several families. The deficiency of TC II exists as at least three variants. The deficiency of TC II is expressed by a profound megaloblastic pancytopenia during the first few weeks of life, but the serum Cbl is normal. In contrast, the deficiency of R binder is asympto...

Journal: :Journal of Biological Chemistry 1996

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