Results 31 to 40 of about 17,750 (254)

Metabolic Diet App Suite for inborn errors of amino acid metabolism

Molecular Genetics and Metabolism, 2016
An increasing number of rare inborn errors of metabolism (IEMs) are amenable to targeted metabolic nutrition therapy. Daily adherence is important to attain metabolic control and prevent organ damage. This is challenging however, given the lack of information of disorder specific nutrient content of foods, the limited availability and cost of specialty
Ho, Gloria, Ueda, Keiko, Houben, Roderick F. A., Joa, Jeff, Giezen, Alette, Cheng, Barbara, van Karnebeek, Clara D. M.   +6 more
openaire   +3 more sources

LABRAD : Vol 39, Issue 2 - December 2013 [PDF]

, 2013
Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core   +1 more source

Fatal Hyperammonemic Brain Injury from Valproic Acid Exposure [PDF]

, 2012
Background: Hyperammonemia is known to cause neuronal injury, and can result from valproic acid exposure. Prompt reduction of elevated ammonia levels may prevent permanent neurological injury.
Bega, Danny, Boland, Torrey Ann, Chou, Sherry Hsiang-Yi, Murray, Michael, Vaitkevicius, Henrikas   +4 more
core   +2 more sources

A Dynamic 3D Human Liver Sinusoid Model for Mechanistic Interrogation of Fontan‐Associated Liver Disease

Advanced Science, EarlyView.
This study presents a perfusable 3D bioengineered liver sinusoid platform that integrates biofabrication, 3D cell culture, controlled hemodynamics, and multiparametric characterization to model Fontan‐associated liver disease. By decoupling pressure and hypoxia effects, the system reveals early mechanobiological and profibrotic responses under ...
Sarah Rezapourdamanab, Mehdi Salar Amoli, Tanmay Mukherjee, Maryam Bagheri, Boeun Hwang, Linqi Jin, Yamini Singh, Sophia Norton, Ashay Vishwas Bongirwar, Shweta Karnik, Lakshmi Prasad Dasi, Reza Avazmohammadi, Rene Romero, Holly D. Bauser‐Heaton, Vahid Serpooshan   +14 more
wiley   +1 more source

Hyperammonemia due to urea cycle disorders: a potentially fatal condition in the intensive care setting [PDF]

, 2014
Disorders of the urea cycle are secondary to a defect in the system that converts ammonia into urea, resulting in accumulation of ammonia and other products. This results in encephalopathy, coma, and death if not recognized and treated rapidly.
Fabiano Pinheiro da Silva, Marcel Cerqueira Machado   +1 more
core   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Diagnostic pitfalls in neonatal hypertyrosinemia: a case report

Life Sciences, Medicine and Biomedicine, 2023
Hypertyrosinemia results from abnormality in tyrosine metabolism. Acquired hypertyrosinemia is notably more common than inherited types and typically presents with profile suggestive of secondary aetiology on biochemical testing.
Karniza Khalid, Mohd Fazrul Shafiq Kamarudzaman, Siti Nurwani Ahmad Ridzuan, Nurul Izzati Hamzan, Norzahidah Khalid, Noor Hafizah Hassan   +5 more
doaj   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Vitamin B2 enables regulation of fasting glucose availability

eLife, 2023
Flavin adenine dinucleotide (FAD) interacts with flavoproteins to mediate oxidation-reduction reactions required for cellular energy demands. Not surprisingly, mutations that alter FAD binding to flavoproteins cause rare inborn errors of metabolism (IEMs)
Peter M Masschelin, Pradip Saha, Scott A Ochsner, Aaron R Cox, Kang Ho Kim, Jessica B Felix, Robert Sharp, Xin Li, Lin Tan, Jun Hyoung Park, Liping Wang, Vasanta Putluri, Philip L Lorenzi, Alli M Nuotio-Antar, Zheng Sun, Benny Abraham Kaipparettu, Nagireddy Putluri, David D Moore, Scott A Summers, Neil J McKenna, Sean M Hartig   +20 more
doaj   +1 more source

Aminosäuren – Leitlinie Parenterale Ernährung, Kapitel 4 [PDF]

, 2009
Protein catabolism should be reduced and protein synthesis promoted with parenteral nutrion (PN). Amino acid (AA) solutions should always be infused with PN. Standard AA solutions are generally used, whereas specially adapted AA solutions may be required
Blumenstein, Irina Ursula, Böhles, Hansjosef, Goeters, Christiane, Schulz, Ralf-Joachim, Stein, Jürgen   +4 more
core