Results 81 to 90 of about 6,550 (239)
Sample Preparation for Determination of Biological Thiols by Liquid Chromatography and Electromigration Techniques [PDF]
, 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
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Customizing carrier screening in the Chinese population: Insights from a 334‐gene panel
Prenatal 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
The impact of surgical intervention on renal function in cystinuria
Brazilian Journal of Nephrology, 2018 Introduction: Cystinuria is an autosomal recessive disorder due to intestinal and renal transport defects in cystine and dibasic amino acids, which result in recurrent urolithiasis and surgical interventions.
Serra Sürmeli Döven +3 more
doaj +1 more source
Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat. [PDF]
PLoS ONE, 2016 Cystinuria is a classical inborn error of metabolism characterized by a selective proximal renal tubular defect affecting cystine, ornithine, lysine, and arginine (COLA) reabsorption, which can lead to uroliths and urinary obstruction.
Keijiro Mizukami +3 more
doaj +1 more source
Plasma membrane transport of thyroid hormones and its role in thyroid hormone metabolism and bioavailability [PDF]
, 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
Journal 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
Aminosäuren – Leitlinie Parenterale Ernährung, Kapitel 4 [PDF]
, 2009 Protein catabolism should be reduced and protein synthesis promoted with parenteral nutrion (PN). Amino acid (AA) solutions should always be infused with PN. Standard AA solutions are generally used, whereas specially adapted AA solutions may be required
Blumenstein, Irina Ursula +4 more
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Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK [PDF]
, 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
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 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