Results 61 to 70 of about 2,214,124 (236)

Clinical pathways for inborn errors of metabolism: warranted and feasible [PDF]

, 2013
Contains fulltext : 118156.pdf (Publisher’s version ) (Open Access)Inborn errors of metabolism (IEMs) are known for their low prevalence and multidisciplinary care mostly founded on expert opinion.
van Kessel Imke N, van Kessel, Imke N., Bosch Annet M, Bosch, Annet M., Korndewal Marjolein J, Meutgeert Hanka, Hollak, Carla E. M., Kessel, I.N. van, Bosch, A.M., Janssen, M.C.H., Morava, E., Marjolein J Korndewal, Imke N van Kessel, Serwet Demirdas, Demirdas, Serwet, Klaren, Anja, Spronsen, F.J. van, Anja Klaren, Hollak, C.E.M., Margreet van Rijn, Rijn, M. van de, Carla EM Hollak, van Rijn Margreet, Meutgeert, Hanka, van Rijn, Margreet, Hanka Meutgeert, van Spronsen Francjan J, Klaren, A., Meutgeert, H., Dutch Working Grp, Korndewal, Marjolein J., Korndewal, M.J., null null, Demirdas, S., Klaren Anja, Francjan J van Spronsen, Annet M Bosch, Hollak Carla EM, van Spronsen, Francjan J., et al., Demirdas Serwet   +40 more
core   +3 more sources

Intravenous lipid emulsions with or without fish oil for the prevention of liver disease in VLBW neonates: A network meta‐analysis

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Background Parenteral nutrition–associated liver disease is a severe complication in very low birth weight (≤1500 g) preterm neonates. Although previous pairwise meta‐analyses have compared individual intravenous lipid emulsions, their relative efficacy across all available formulations has not been established in this population.
Maria Di Chiara, Giovanni Boscarino, Gianluca Terrin   +2 more
wiley   +1 more source

Exclusive enteral nutrition containing transforming growth factor‐β improves intestinal barrier function in a colitis mouse model

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Exclusive enteral nutrition (EEN) is the first‐line treatment for pediatric Crohn's disease, but its mechanisms of action remain poorly understood. Our aim was to identify the mechanisms that could explain the anti‐inflammatory effects of EEN, studying the nutritional composition and transforming growth factor‐β (TGF‐β) effects, in ...
Kawthar Boumessid, Vickie Lacroix, Ekaterina Ovtchinnikova, Sophie Thenet, Marie Carriere, Frédérick Barreau, Emmanuel Mas   +6 more
wiley   +1 more source

Inborn Errors of Metabolism

, 2017
Until now, most studies on the pathophysiological mechanisms of inborn errors of metabolism have almost exclusively focused on the measurement of concentrations of different metabolites in plasma, urine, or cerebrospinal fluid.
Frits A. Wijburg, Ronald J.A. Wanders, Wanders, Ronald J.A., Hidde H. Huidekoper, Huidekoper, Hidde; id_orcid, Wijburg, Frits A.   +5 more
core   +1 more source

Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening

, 2023
<p>Objective: Pathologic results in expanded metabolic screening tests may be due to the medications, inappropriate sampling methods, or the maternal originated inborn errors of metabolism.
Oguzhan Tin, Tanyel Zubarioglu, Tin, Oguzhan, Cansever, Mehmet Serif, Cigdem Aktuglu-Zeybek, Zuebarioglu, Tanyel, Aktuglu-Zeybek, Cigdem, Mehmet Serif Cansever, Ertugrul Kiykim, Kiykim, Ertugrul   +9 more
core   +1 more source

Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study

Movement Disorders, EarlyView.
Abstract Background Although not confirmed, some studies have suggested that elevated homocysteine levels are common in patients with Huntington's disease (HD). Its clinical relevance remains unclear. Objectives We aimed to assess vitamin B and homocysteine levels in HD patients and explore the relationships among hyperhomocysteinemia, vitamin B ...
Salomé Puisieux, Elise Pourié, Céline Bonnet, Lucie Hopes, Solène Frismand, Myriam Bronner, Virginie Roth, Marion Wandzel, Natacha Sloboda, Laetitia Lambert, Abderrahim Oussalah, Amélia Julien, Irina Rotaru, Rosa‐Maria Guéant‐Rodriguez, Jean Louis Guéant, Carine Bossenmeyer‐Pourié, Mathilde Renaud   +16 more
wiley   +1 more source

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

, 2019
Pyrimidine nucleotides are essential for a vast number of cellular processes and dysregulation of pyrimidine metabolism has been associated with a variety of clinical abnormalities.
Wassermann, Wyeth W, Bidon-Chanal, Axel, Kulik, Wim, Pérez-Torras, Sandra, Viel-Oliva, Albert, Pastor-Anglada, Marçal, Ross, Colin J, Meinsma, Rutger, Drögemöller, Britt, Tarailo-Graovac, Maja, Meijer, Judith, Mata-Ventosa, Aida, van Cruchten, Arno G, van Karnebeek, Clara D M, van Kuilenburg, André B P   +14 more
core   +1 more source

Improving Fetal Single‐Voxel Magnetic Resonance Spectroscopy With Spectral Registration

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose To evaluate whether spectral registration improves spectral quality and quantification reliability in in vivo single‐voxel fetal brain MRS: Methods Fourteen fetal PRESS datasets were acquired at 3 T at TE = 35 ms and TE = 135 ms. Raw data were processed with eddy‐current phase correction, coil combination, spectral registration, and ...
Andres Saucedo, Qinqin Yang, Ali Gholipour   +2 more
wiley   +1 more source

Automated Screening for Three Inborn Metabolic Disorders: A Pilot Study [PDF]

, 2006
Background: Inborn metabolic disorders (IMDs) form a large group of rare, but often serious, metabolic disorders. Aims: Our objective was to construct a decision tree, based on classification algorithm for the data on three metabolic disorders, enabling ...
N Rao, Ananth, Sarbadhikari SN, S N, Sarbadhikari, Kavitha S, Ananth N Rao, S, Kavitha   +5 more
core  

Inborn Errors of Metabolism

, 2016
Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and ...
Ezgu, FATİH SÜHEYL, Fatih Ezgu
core   +1 more source