نتایج جستجو برای: familial hypophosphatemic rickets

تعداد نتایج: 58833  

2017
Alexandra Varga Leigh Cressman Ebbing Lautenbach Valerie Cluzet Pam Tolomeo Warren Bilker Keith Hamilton

2018
Zebing Rao Na Zhang Ning Xu Ying Pan Mengjun Xiao Junxian Wu Hong Zhou Shuo Yang Yunzi Chen

[This corrects the article on p. 1308 in vol. 8, PMID: 29085368.].

2000
Marina A. Freudenberg Thomas Merlin Andreas Sing Peter J. Nielsen Chris Galanos

Journal: :Emerging Infectious Diseases 2008
Ulrich Sagel Berit Schulte Peter Heeg Stefan Borgmann

On the basis of a large outbreak of vancomycin-resistant Enterococcus faecium in a German university hospital, we estimated costs ( approximately 1 million Euros) that could have been avoided by early detection of the imminent outbreak. For this purpose, we demonstrate an easy-to-use statistical method.

2015
Alyaa M. Abdel-Haleem Zineb Rchiad Babar K. Khan Abdallah M. Abdallah Raeece Naeem Shalam Nikhat Sheerin Victor Solovyev Abdalla Ahmed Arnab Pain

The emergence and spread of multidrug-resistant (MDR) bacteria have been regarded as major challenges among health care-associated infections worldwide. Here, we report the draft genome sequence of an MDR Stenotrophomonas maltophilia strain isolated in 2014 from King Abdulla Medical City, Makkah, Saudi Arabia.

Journal: :Journal of clinical microbiology 2009
Anton Mak Mark A Miller George Chong Yury Monczak

We compared PCR to conventional culture for the detection of vancomycin-resistant enterococci (VRE) in 30,835 rectal samples over a 3-year period. The positive and negative predictive values of vanB PCR were 1.42% and 99.9%, respectively. A positive vanB result by PCR is poorly predictive and necessitates culture for differentiation of VRE-positive and -negative individuals.

Journal: :Srpski arhiv za celokupno lekarstvo 2014
Vladimir Radlović Zeljko Smoljanić Nedeljko Radlović Zoran Leković Dragana Ristić Sinisa Ducić Polina Pavićević

INTRODUCTION X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. We present a girl with X-linked hypophosphatemic rickets (XLHR) as a consequence of de novo mutation in the PHEX gene. CASE OUTLINE A 2.2-year-old girl presented with prominent lower limb rachitic deformity, waddling gait and ...

Journal: :acta medica iranica 0
aria setoodeh growth and development research center, tehran university of medical sciences, tehran, iran. and department of pediatric endocrinology, children's medical center , tehran university of medical sciences, tehran, iran. ali rabbani growth and development research center, tehran university of medical sciences, tehran, iran. and department of pediatric endocrinology, children's medical center , tehran university of medical sciences, tehran, iran.

fanconi- bickel syndrome (fbs) is a rare type of glycogen storage disease (gsd) characterized by hepatomegaly, proximal renal tubular acidosis (rta) and marked growth retardation. we report a case of fbs presenting with diabetic ketoacidosis and transient neonatal diabetes. a female infant, product of consanguineous marriage presented with diabetic ketoacidosis at age 33 days, and was treated a...

2013
Gabriela Godina Hernández Francisco Belmont Laguna

Hypophosphatemic rickets (HR), also known as refractory, vitamin D resistant rickets, is a hereditary disease linked to the X chromosome. It is characterized by the metabolic disturbance of calcium and phosphate, which causes defective calcifi cation of mineralized structures such as bones and teeth.1,2 It is the most common type of rickets found in developed countries. Its incidence can be cou...

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