Results 251 to 260 of about 39,677 (355)

Implementing and validating newborn screening for inborn errors of metabolism in South India: a 2-year observational study at a tertiary care hospital. [PDF]

BMJ Public Health
Chikkalingaiah MH, Bevinakoppamath S, Archana SS, Kapa A, Kempegowda SN, Shivashankar KK, Ramachandra SC, K Basavarajaiah S, Nataraj S, Prashant A.   +9 more
europepmc   +1 more source

Serum Visfatin Level and Cardiac Valve Calcifcation in Hemodialysis Patients

Hemodialysis International, EarlyView.
ABSTRACT Background Cardiac valve calcification is a serious complication in patients with cardiovascular disease. This study investigated the relationship between visfatin levels and cardiac valve calcification in individuals undergoing hemodialysis.
Xiaoqi Wang, Dan Yuan, Feng Shao, Conghui Liu, Xiao Zhang, Zhongxin Li   +5 more
wiley   +1 more source

An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism. [PDF]

Mol Genet Metab
Wurth R, Turgeon C, Stander Z, Oglesbee D.   +3 more
europepmc   +1 more source

Metabolic studies following orthotopic liver transplantation [PDF]

, 1971
Starzl, TE
core  

Common Hematologic Emergencies—Acute Promyelocytic Leukemia and Microangiopathic Hemolytic Anemias—A Pivotal Role of Clinical Laboratory

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Hematologic emergencies are urgent health conditions which result in significant mortality and morbidity unless timely therapeutic measures are taken. Therapeutic success depends on their timely and accurate recognition by hematology laboratory services.
Ganna Shestakova, Nicolas Ulrich Edgar, Anton V. Rets   +2 more
wiley   +1 more source

Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review

, 2004
Abdullah Pandor, J. Eastham, Catherine Beverley, J. Chilcott, Suzy Paisley   +4 more
openalex   +2 more sources

Excretion of organic acids associated with biotin deficiency in chronic anticonvulsant therapy [PDF]

, 1984
Berlit, Peter, Bonjour, Jean-Pierre, Kochen, W., Krause, Klaus-Henning   +3 more
core  

Parental Education Predicts Longitudinal IQ Trajectories in 22q11.2 Deletion Syndrome: A Three‐Cohort European Study

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background 22q11.2 deletion syndrome (22q11DS) is a genetic disorder characterised by a wide range of physical, cognitive, and psychiatric symptoms. Current knowledge on 22q11DS highlights considerable variation in cognitive outcomes, but the role of environmental factors in shaping these trajectories over time remains poorly understood.
Yelyzaveta Snihirova, Therese van Amelsvoort, Ann Swillen, Marianne van den Bree, Dennis van der Meer, Janet Harwood, Claudia Vingerhoets, David E. J. Linden   +7 more
wiley   +1 more source

Corrigendum: Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022. [PDF]

Front Genet
Wang D, Zhang J, Yang R, Zhang D, Wang M, Yu C, Yang J, Huang W, Liu S, Tang S, He X.   +10 more
europepmc   +1 more source

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism

, 2004
Jeannette Gootjes, Frank Schmohl, Petra A.W. Mooijer, Conny Dekker, Hanna Mandel, Meral Topçu, Martina Huemer, Marco Schütz, Thorsten Marquardt, Jan Smeitink, Hans R. Waterham, Ronald J. A. Wanders   +11 more
openalex   +1 more source