Results 111 to 120 of about 174,613,300 (296)

Hyperargininemia experiences over last 7 years from a tertiary care center

Journal of Pediatric Neurosciences, 2019
Context: Several Enzymes carry out chemical reactions for the production of energy and carrying out normal functioning of the organism. Disorders of these functions can result in permanent damage to the child affecting multiple systems.
Sadanandavalli Retnaswami Chandra, Rita Christopher, Chakravarthula Nitin Ramanujam, Ganaraja Valakunja Harikrishna   +3 more
doaj   +1 more source

High Myopia: A Pointer of an Inborn Error of Metabolism. [PDF]

Cureus, 2022
Sahu SK, Behera JR, Kr J, Puramjai M, Gudu R, Dash AK, Rup AR, Patnaik S.   +7 more
europepmc   +1 more source

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions: A Diagnostic Algorithm With Focus on Treatable Conditions [PDF]

, 2018
Although inborn errors of metabolism do not represent the most common cause of seizures, their early identification is of utmost importance, since many will require therapeutic measures beyond that of common anti-epileptic drugs, either in order to ...
Nenad Blau, Carlos R. Ferreira, Horvath, Gabriella A, Bryan Sayson, Horvath, Gabriella A., Carlos R. Ferreira (6035918), Jessica J. Y. Lee, van Karnebeek, Clara D M, van Karnebeek, Clara D. M., Nenad Blau (3664690), Tseng, Laura A, Sayson, Bryan, Gabriella A. Horvath, Bryan Sayson (6035906), Gabriella A. Horvath (6035915), Ferreira, Carlos R, Ferreira, Carlos R., Clara D. M. van Karnebeek, Clara D. M. van Karnebeek (6035903), Lee, Jessica J Y, Lee, Jessica J. Y., Tseng, Laura A., Blau, Nenad, Jessica J. Y. Lee (6035909), Laura A. Tseng (6035912), Laura A. Tseng   +25 more
core   +1 more source

Diaphragm Ultrasonography Reveals Progressive Changes in Diaphragmatic Function, Morphology, and Muscle Trophism During Invasive Mechanical Ventilation in Children

Journal of Clinical Ultrasound, EarlyView.
Diaphragm ultrasonography detected progressive structural and functional deterioration in mechanically ventilated children. Prolonged invasive mechanical ventilation and neuromuscular blocking agent use were associated with ventilator‐induced diaphragmatic dysfunction, highlighting ultrasound as a valuable bedside tool to support individualized ...
Juliana Bezerra dos Santos, Emmerson Carlos Franco de Farias, Mary Lucy Ferraz Maia Fiuza de Mello, Rodrigo Santiago Barbosa Rocha   +3 more
wiley   +1 more source

Inborn error of metabolism precipitated by COVID-19: challenges in the absence of an expanded newborn screening as state health programmes. [PDF]

BMJ Case Rep, 2022
Olety P, Safwan GM, Shenoy RD.
europepmc   +1 more source

National trends in pediatric sepsis hospitalizations, case mix, and mortality, 2016–2022

Journal of Hospital Medicine, EarlyView.
Abstract Introduction Sepsis is a life‐threatening organ dysfunction caused by a dysregulated host response to infection. We evaluated changes in hospitalizations for children with sepsis between 2016 and 2022 and investigated factors associated with in‐hospital mortality.
Sriram Ramgopal
wiley   +1 more source

Incidence of inborn errors of metabolism: results of newborn screening program in North-East Italy

, 2001
Incidence of inborn errors of metabolism: results of newborn screening program in North-East ...
Tatò L., MAFFEIS, Claudio, Micciolo R, ZAFFANELLO, Marco, CAMILOT, Marta   +4 more
core   +1 more source

The Kidney Involvement In Inborn Errors Of Metabolism

, 2017
Inborn errors of metabolism are characterized by a significant heterogeneity in pathophysiological mechanisms and clinical manifestations. A variety of kidney disorders, inherited or acquired, can consist clinical signs of metabolic disorders.
Evangeliou, A. (Athanasios), Gogou, M. (Maria), Tramma, D. (Despoina)   +2 more
core  

Causes of death among veterans with alcohol use disorder‐related conditions: A 5‐year follow‐up study of Veterans Health Administration hospitalizations

Journal of Hospital Medicine, EarlyView.
Abstract Background Alcohol use disorder‐related (AUD) diagnoses are common among hospitalized Veterans. Our prior research found that the presence of any AUD‐related diagnosis during hospital admission is associated with a 30% 5‐year mortality rate. Objective To compare demographics and causes of death between hospitalized patients within the Veterans
James C. Willey, Shivali Patel, Bjarni Haraldsson, George Bailey, Andrea Holcombe, Amy M. J. O'Shea, Thad Abrams, Jeydith Gutierrez   +7 more
wiley   +1 more source

Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man

, 1996
In two children with an accumulation of guanidinoacetate in brain and a deficiency of creatine in blood, a severe deficiency of guanidinoacetate methyltransferase (GAMT) activity was detected in the liver.
Isbrandt, Dirk, Figura, Kurt von, Schmidt, Bernhard, Stockler, Sylvia, Hanefeld, Folker   +4 more
core   +1 more source