Results 81 to 90 of about 6,666 (226)

Unilateral renal mucormycosis in a patient presenting with pyelonephritis and acute kidney failure: A case report. [PDF]

open access: yesClin Case Rep
Key Clinical Message Unilateral renal mucormycosis is a rare infection that should be suspected in patients with recurrent renal infections presenting nonspecific clinical features that do not respond to conventional therapies, especially in impaired ...
Darouei B   +3 more
europepmc   +2 more sources

Sample Preparation for Determination of Biological Thiols by Liquid Chromatography and Electromigration Techniques [PDF]

open access: yes, 2004
Wydrukowano z dostarczonych Wydawnictwu UŁ gotowych materiałówMajority of the bioanalytical or environmental methods do not use just one chromatografie or electrophoretic step, but rather involve several sample pretreatment steps which simplfy the ...
Bald, Edward
core  

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]

open access: yes, 2015
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz   +5 more
core   +3 more sources

Electroanalytical Overview: Screen‐Printed Electrochemical Sensing Platforms

open access: yesChemElectroChem, Volume 11, Issue 19, October 1, 2024.
In our paper we overview the use of screen‐printed electrode focusing on metallic and bulk modified varieties, geometric changes (micro, microband and associated arrays), electrode activation and finally the physical length of screen‐printed electrodes, providing insights for future research.
Robert D. Crapnell, Craig E. Banks
wiley   +1 more source

Plasma membrane transport of thyroid hormones and its role in thyroid hormone metabolism and bioavailability [PDF]

open access: yes, 2001
Although it was originally believed that thyroid hormones enter target cells by passive diffusion, it is now clear that cellular uptake is effected by carrier-mediated processes.
Docter, R. (Roel)   +5 more
core   +3 more sources

Customizing carrier screening in the Chinese population: Insights from a 334‐gene panel

open access: yesPrenatal Diagnosis, Volume 44, Issue 11, Page 1335-1343, October 2024.
Abstract Objective This study aimed to evaluate the yield and applicability of expanded carrier screening and propose carrier rate screening thresholds suitable for the Chinese population by comparing the current screening panel with the American College of Medical Genetics and Genomics recommended panel of 113 genes.
Sha Liu   +11 more
wiley   +1 more source

Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK [PDF]

open access: yes, 2017
BACKGROUND: Whilst still rare, the incidence of paediatric stone disease is increasing in developed countries and it is important to evaluate the aetiology.
Bockenhauer, D   +5 more
core   +1 more source

Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?

open access: yesJournal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 841-859, September 2024.
Abstract This review summarises progress in the research of homocystinuria (HCU) in the past three decades. HCU due to cystathionine β‐synthase (CBS) was discovered in 1962, and Prof. Jan Peter Kraus summarised developments in the field in the first‐ever Komrower lecture in 1993. In the past three decades, significant advancements have been achieved in
Viktor Kožich, Tomas Majtan
wiley   +1 more source

Inherited epithelial transporter disorders—an overview [PDF]

open access: yes, 2018
Summary: In the late 1990s, the identification of transporters and transporter-associated genes progressed substantially due to the development of new cloning approaches such as expression cloning and, subsequently, to the implementation of the human ...
Bergeron, M.   +3 more
core  

Miscellanea. Folyóirat-referátumok. [PDF]

open access: yes, 2015
Angiológia A claudicatio intermittens pragmatikus kezelési programja keretében adott cilostazol hatása (Effect of cilostazol prescribed in a pragmatic treatment program for intermittent claudication) Lee, C., Nelson, P. R. (Department of
Apor, Péter   +2 more
core   +1 more source

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