Results 41 to 50 of about 6,097 (205)
Electroanalytical Overview: Screen‐Printed Electrochemical Sensing Platforms
ChemElectroChem, 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
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
core
Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula [PDF]
, 2015 Acessível em: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375120/Homocystinuria due to cystathionine β-synthase deficiency or "classical homocystinuria" is a rare autosomal recessive condition resulting in altered sulfur metabolism with elevated ...
E Martins +25 more
core +1 more source
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
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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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 +2 more sources
Metabolic consequences of cystinuria [PDF]
BMC Nephrology, 2019 Cystinuria is an inherited disorder of renal amino acid transport that causes recurrent nephrolithiasis and significant morbidity in humans. It has an incidence of 1 in 7000 worldwide making it one of the most common genetic disorders in man. We phenotypically characterized a mouse model of cystinuria type A resultant from knockout of Slc3a1.Knockout ...
Amrik Sahota +11 more
openaire +4 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
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