نتایج جستجو برای: menkes

تعداد نتایج: 1314  

Journal: :Archives of disease in childhood 1968
R J Pollitt F A Jenner M Davies

Trichorrhexis nodosa is a condition in which individual hairs develop areas where the shaft has split longitudinally into numerous small fibres. The hairs eventually break at these points leaving brush-like ends. Usually trichorrhexis nodosa results from mechanical trauma or harsh chemical treatment (Chernosky and Owens, 1966), but two inherited disorders, argininosuccinic aciduria (Allan et al...

2014
Niniek Lely Pratiwi

Background The number 2556/Menkes/Per/XII/2011 Permenkes policy guidelines on Health Operational Funds Channelling (BOK) has been revised several times during the process of implementation since first launched in 2010 by Ministry of Health in Indonesia. BOK disbursement to local governments as a form of government responsibility, for the development of public health, is aimed at improving healt...

Journal: :Clinical genetics 2013
C Schoonveld A Donsante D del Gaudio D Waggoner S Das S G Kaler

To the Editor : Whole-genome data in medical contexts have become increasingly available because of technological advances and improved sequencing efficiency. As a consequence, a rise in ambiguous situations involving novel molecular alterations and their potential association with human illness can be anticipated (1). The inability to predict clinical phenotypes based on mutations and copy num...

Journal: :Endocrine-related cancer 2004
V L Goodman G J Brewer S D Merajver

Copper is a tightly regulated trace element. Disruptions of copper homeostasis are rare and they cause serious disorders such as Wilson's disease and Menkes disease. Copper also plays an important role in promoting physiological and malignant angiogenesis. Formation of new blood vessels by a tumor enables tumor growth, invasion and metastasis. The copper chelator tetrathiomolybdate (TM), which ...

2013
Aditya Suryansyah

Results There are 471 samples met the inclusion criteria, 215 boys and 256 girls. In girls, signs of puberty at age of 9 <10 years are 48.2%, while in age 12 <13 all had puberty. In boys, signs of puberty at age of 9 <10 years are 1.7%, while in age 12 <13 years are 66.7%. Pubic hair sign in girls at the age of 9 <10 years (4.4%), in boys aged 11 <12 years (29%). Occurred menarche at age 10 <11...

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