Results 71 to 80 of about 6,550 (239)

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Inborn errors of metabolism (IEMs) are rare genetic conditions with significant morbidity and mortality. Technological advances have increased therapeutic options, making it challenging to remain up to date. A centralized therapy knowledgebase is needed for early diagnosis and targeted treatment. This study aimed to identify all treatable IEMs
Bibiche den Hollander, Eva M. M. Hoytema van Konijnenburg, Brittany Hewitson, Jan C. van der Meijden, Berith M. Balfoort, Brad Winter, Annelieke R. Müller, Wyeth W. Wasserman, Carlos R. Ferreira, Clara D. van Karnebeek   +9 more
wiley   +1 more source

Ureteroscopic lithotripsy for ureteral stones in children using holmium: yag laser energy: results of a multicentric survey [PDF]

, 2019
BACKGROUND: Holmium:YAG (Ho:YAG) laser lithotripsy has broadened the indications for ureteroscopic stone managements in adults, but few evidence are currently available in the pediatric population. OBJECTIVE: This article aimed to assess the outcome
Bagnara, V., Escolino, M., Esposito, C., Golebiewski, A., Masieri, L., Tokar, B.   +5 more
core   +1 more source

Mechanisms and therapeutic potential of disulphidptosis in cancer

Cell Proliferation, Volume 58, Issue 1, January 2025.
SLC7A11 plays a pivotal role in tumour development by facilitating cystine import to enhance glutathione synthesis and counteract oxidative stress. Disulphidptosis, an emerging form of cell death observed in cells with high expression of SLC7A11 under glucose deprivation, is regulated through reduction–oxidation reactions and disulphide bond formation.
Yanhu Li, Haijun Zhang, Fengguang Yang, Daxue Zhu, Shijie Chen, Zhaoheng Wang, Ziyan Wei, Zhili Yang, Jingwen Jia, Yizhi Zhang, Dongxin Wang, Mingdong Ma, Xuewen Kang   +12 more
wiley   +1 more source

CATs and HATs: the SLC7 family of amino acid transporters [PDF]

, 2018
The SLC7 family is divided into two subgroups, the cationic amino acid transporters (the CAT family, SLC7A1-4) and the glycoprotein-associated amino acid transporters (the gpaAT family, SLC7A5-11), also called light chains or catalytic chains of the ...
Closs, Ellen, Endou, Hitoshi, Kanai, Yoshikatsu, Palacin, Manuel, Verrey, François, Wagner, Carsten   +5 more
core  

Bilateral Ureteral Lithiasis and Postrenal Acute Kidney Injury: A Rare Complication of Diabetic Ketoacidosis in a Child

Case Reports in Pediatrics, Volume 2025, Issue 1, 2025.
Diabetic ketoacidosis (DKA) is a common initial presentation of type 1 diabetes mellitus (T1DM) in children occurring in up to 40% of cases. DKA can also be associated with severe complications, including nephrolithiasis. We present the case of a 12 years and 8‐month‐old boy who developed acute kidney injury (AKI) secondary to bilateral urinary ...
Fabio Rotondo, Sofia Siena, Maria Rosa Pastore, Pasquale Pio Maccarone, Morena Luce Mansueto, Irene Rutigliano, Andrea Scaramuzza   +6 more
wiley   +1 more source

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, FD Testai, G Sebastio, H Gan-Schreier, M Cozar, M Furujo, M Meier, M Nagao, ME Chamberlin, ME Chamberlin, ME Chamberlin, ML Couce, MM Rebollido-Fernandez, MS Rashed, PM Gallagher, R Banerjee, R Castro, R Urreitzi, R Urreizti, S Chadwick, S Stabler, S Tortorelli, SH Mudd, SH Mudd, SJ Moat, Y Chien   +25 more
core   +1 more source

TREATMENT OF CYSTINURIA [PDF]

Archives of Internal Medicine, 1915
Cystinuria is a rare but very interesting disease. Its chief interest is from the point of view of body metabolism and the various careful studies of this disease have added much to our knowledge of protein katabolism. The treatment of the disease has received but little consideration.
openaire   +2 more sources

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

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

Ca2+-mediated higher-order assembly of heterodimers in amino acid transport system b0,+ biogenesis and cystinuria

Nature Communications, 2022
Cystinuria is caused by mutations in heterodimeric amino acid transporter known as system b0,+. Here, authors discover that Ca2+ stabilizes the interface between two system b0,+ regulatory subunits rBAT, leading to super-dimerization of the b0,+AT–rBAT ...
Yongchan Lee, Pattama Wiriyasermkul, Pornparn Kongpracha, Satomi Moriyama, Deryck J. Mills, Werner Kühlbrandt, Shushi Nagamori   +6 more
doaj   +1 more source