Results 101 to 110 of about 8,821 (269)

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

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

Miscellanea. Folyóirat-referátumok. [PDF]

, 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, Fischer, Tamás, Gáspárdy, Géza   +2 more
core   +1 more source

Gene identification for the cblD defect of vitamin B12 metabolism [PDF]

, 2008
Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Baumgartner, M R, Coelho, D, Fowler, B, Lerner-Ellis, J P, Newbold, R F, Rosenblatt, D S, Stucki, M, Suormala, T   +7 more
core   +1 more source

PROPHYLAXIA OF CYSTINE CALCULOSIS BY α-MERCAPTOPROPIONYLGLYCINE ADMINISTERED CONTINUOUSLY OR EVERY OTHER DAY

Journal of Biological Research
Cystinuria is a complex autosomal recessive inherited disorder found in approximately one out of 7000 births. The disease affects the renal tubular reabsorption of certain filtered amino acids, i.e., cystine, lysine, arginine and ornithine. Owing to the
A. Berio, A. Piazzi
doaj   +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, Ali Delibaş, Hakan Taşkınlar, Ali Naycı   +3 more
doaj   +1 more source

Renal stones in two children with two rare etiologies

Saudi Journal of Kidney Diseases and Transplantation, 2018
The incidence of urolithiasis in children has shown an increase in recent years which may be attributed to changing dietary patterns, sedentary lifestyles, and obesity.
Gurinder Kumar, Rami Raad AlAni
doaj   +1 more source

Homocystinuria, a Possible Solution of the Akhenaten’s Mystery [PDF]

, 2010
Pharaoh Amenophis IV (Amenhotep IV), also known as Akhenaten, is the most mysterious person in Egyptian history and he still remains the object of academic argues. This revolutionary king introduced a new concept in Egyptian religion and arts.
Boris Brkljačić, Boris Olujić, Mislav Čavka, Tomislav Kelava, Vlatka Čavka, Željko Bušić   +5 more
core   +1 more source

Meta-analysis of genome-wide association studies of anxiety disorders. [PDF]

, 2016
Anxiety disorders (ADs), namely generalized AD, panic disorder and phobias, are common, etiologically complex conditions with a partially genetic basis.
Adkins, D., Aggen, S.H., Bigdeli, T., Boomsma, D., Byrne, E.M., Castelao, E., der Auwera, S.V., Direk, N., Fanous, A., Gordon, S., Grabe, H.J., Hartman, C.A., Heath, A.C., Hek, K., Henders, A.K., Hettema, J.M., Hofman, A., Homuth, G., Hottenga, J.J., Keller, M.C., Kutalik, Z., Lee, M., Madden, P.A., Maher, B.S., Martin, N.G., Medland, S.E., Middeldorp, C.M., Milaneschi, Y., Mirza, S.S., Montgomery, G., Mulder, C.L., Nauck, M., Nivard, M.G., Nolte, I.M., Oldehinkel, A.J., Otowa, T., Penninx, B.W., Pergadia, M.L., Preisig, M., Teumer, A., Tiemeier, H., Uitterlinden, A., van den Oord, E.J., van der Most, P.J., van Oort, F.V., Wolen, A., Wray, N.R.   +46 more
core   +2 more sources

Inherited epithelial transporter disorders—an overview [PDF]

, 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., Bürzle, M., Hediger, M., Simonin, A.   +3 more
core  

Accuracy of urine pH testing in a regional metabolic renal clinic: is the dipstick accurate enough? [PDF]

, 2013
Urine pH is a useful marker for assessing treatment need and efficacy in patients with nephrolithiasis. Though the gold standard of measurement is with a pH electrode, dipsticks offer the convenience of cost, ease of use, and the possibility of patients ...
Caroline Robinson, Deborah Spencer, Fiona E. Karet Frankl, Oliver J. Wiseman, Tsong Kwong   +4 more
core   +1 more source