نتایج جستجو برای: fabry

تعداد نتایج: 6280  

Journal: :Neurology 2010
Laura Fancellu Giovanni Andrea Deiana GianPietro Sechi

Laura Fancellu, MD Giovanni Andrea Deiana, PhD GianPietro Sechi, MD A 41-year-old man with chronic hypertension presented in a transient, global confusional state. The patient had neuropathic pain and kidney disease, the significance not recognized by his doctors. Family history was positive for hypertension and kidney disease. Brain CT, MRI, and magnetic resonance angiography showed abnormalit...

2010
Ki Bum Park Kyung Ream Han Jae Woo Lee Seung Ho Kim Do Wan Kim Chan Kim Jung Min Ko

Fabry disease is an X-linked lysosomal disease caused by deficiency of α-galactosidase, in which early diagnosis may be missed due to the wide variety of clinical symptoms presenting during disease progression. A 13 year-old boy visited our pain clinic complaining of pricking and burning pain in the toe tips of both feet. Continuous epidural infusion for pain management was performed because of...

2013
Dae Hun Kim Soo Yeon Kim Myung Im Young Lee Young Joon Seo Jeung Hoon Lee

A 28-year-old Asian male was referred for dermatologic evaluation of diffuse bluish-red maculopapules in the lower trunk and genital regions. There was no family history, and with the exception of dispersed skin lesions and hypohidrosis, no other complaints or symptoms were present. Histological evaluation of the skin lesions revealed angiokeratomas. When this combination of clinical and histol...

2010
Jeong-Yup Kim Young-Youl Hyun Ji-Eun Lee Hye-Ran Yoon Gu-Hwan Kim Han-Wook Yoo Seong-Tae Cho No-Won Chun Byoung-Chunn Jeoung Hwa-Jung Kim Keong-Wook Kim Seong-Nam Kim Yung-A Kim Hyun-Ah Lee Jong-Young Lee Yung-Chun Lee Hun-Kwan Lim Keong-Sik Oh Seong-Hwan Son Beong-Hee Yu Kyeong-So Wee Eun-Jong Lee Young-Ki Lee Jung-Woo Noh Seung-Jung Kim Kyu-Bok Choi Suk-Hee Yu Heui-Jung Pyo Young-Joo Kwon

BACKGROUND/AIMS Fabry disease is an X-linked recessive and progressive disease caused by α-galactosidase A (α-GaL A) deficiency. We sought to assess the prevalence of unrecognized Fabry disease in dialysis-dependent patients and the efficacy of serum globotriaosylceramide (GL3) screening. METHODS A total of 480 patients of 1,230 patients among 17 clinics were enrolled. Serum GL3 levels were m...

Journal: :Applied optics 1992
J A Lock R G Seasholtz W T John

Rayleigh-Brillouin spectra for heated nitrogen gas were measured by imaging the output of a Fabry-Perot interferometer onto a CCD array. The spectra were compared with the theoretical 6-moment model of Rayleigh-Brillouin scattering convolved with the Fabry-Perot instrument function. Estimates of the temperature and a dimensionless parameter proportional to the number density of the gas as funct...

2015
Aitor Lopez-Aldaba Ana Margarida Rodrigues Pinto Manuel López-Amo Orlando Frazão José Luís Santos José Manuel Baptista Hardy Baierl Jean-Louis Auguste Raphael Jamier Philippe Roy

A hybrid Fabry-Pérot cavity sensing head based on a four-bridge microstructured fiber is characterized for temperature sensing. The characterization of this cavity is performed numerically and experimentally in the L-band. The sensing head output signal presents a linear variation with temperature changes, showing a sensitivity of 12.5 pm/°C. Moreover, this Fabry-Pérot cavity exhibits good sens...

2002
M. Rakhmanov D. B. Tanner

The dynamics of light in Fabry–Perot cavities with varying length and input laser frequency are analyzed. At high frequencies, the response to length variations is very different from the response to laser frequency variations. Implications for kilometerscale Fabry–Perot cavities such as those utilized in gravitational-wave detectors are discussed.  2002 Elsevier Science B.V. All rights reserv...

Journal: :Arquivos brasileiros de oftalmologia 2011
Fabio Yamasato Yonamine Tiago Eugênio Faria e Arantes Cristina Muccioli

Fabry disease is an X-linked disease of glycosphingolipid (GL) metabolism. The accumulation of GL in tissues can affect multiple organ systems. Initial symptoms includes episodes of severe pain in the extremities, cornea verticillata and skin lesions. In late stages, kidney, heart and brain can be involved. This report attempts for importance of cornea verticillata in the diagnosis of Fabry dis...

2008
Alexandre Eremenko

Fabry’s theorem on the singularities of power series is improved: the maximum density in the assumptions of this theorem is replaced by an interior density of Beurling–Malliavin type. MSC classes: 30B10, 30B40.

2007
Mehmet Caner

This paper investigates the Generalized Empirical Likelihood (GEL) Estimators when there are local violations of the exogeneity condition (near exogeneity) in the case of many weak moments. We also examine the tradeoff between the degree of violation of the exogeneity and the number of nearly exogenous instruments. In this respect, this paper extends many weak moment asymptotics of Newey and Wi...

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