Results 141 to 150 of about 167,513,957 (289)

Incidence and geographic distribution of biliary atresia in children under 1 year of age in Colombia during the period 2018-2021

Revista de la Facultad de Medicina
Introduction: Biliary atresia (BA) is the most common cause of obstructive jaundice in the first months of life. If not treated promptly, BA rapidly progresses to biliary cirrhosis and eventually leads to early death.
Angie Vanessa Vergara-Espitia, John Jairo Zuleta-Tobón, Patricia Ruiz-Navas, Margarita María Suarez-Galvis   +3 more
doaj   +1 more source

Evaluation of Immunization Rates and Safety Among Children With Inborn Errors of Metabolism

, 2011
BACKGROUND: Children with inherited metabolic disorders are a potential high-risk group for vaccine-preventable diseases, yet information regarding immunization rates and vaccine safety within this population is ...
Stuart K. Shapira, Barbara Slade, Marshall Summar, Laurie Aukes, Nicola P. Klein, Bruce Fireman, Roger Baxter, Janelle Lee   +7 more
core   +1 more source

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

Retraction notice to “Case-control study about the acceptance of Pegvaliase in Phenylketonuria” Molecular Genetics and Metabolism Reports 22 (2020) 100557.

Molecular Genetics and Metabolism Reports, 2021
Johannes Krämer
doaj   +1 more source

Amino Acid Deficiency Secondary to Continuous Venovenous Hemofiltration in Acute Decompensation of Organic Acidemias: An Anabolic Dead End?

Critical Care Explorations
OBJECTIVE:. To evaluate the impact of continuous renal replacement therapy (CRRT) on plasma amino acid (AA) concentrations in patients with acute metabolic decompensation of organic acidemias (OAs), and to explore whether AA supplementation during CRRT ...
Chloé Grosyeux, MD, Noémie Cammiciotto, PhD, Elise Jeannesson, PharmD, PhD, Eva Feigerlova, MD, PhD, Valentine Villada, MD, Camille Wicker, MD, Michael Levy, MD, PhD, Manuel Schiff, MD, PhD, Apolline Imbard, PharmD, PhD, David Coelho, PhD, François Feillet, PhD, Arnaud Wiedemann, MD, PhD   +11 more
doaj   +1 more source

Integrative approaches for the diagnosis of inborn errors of metabolism

, 2019
Inborn errors of metabolism (IEM) are a group of inherited genetic disorders affecting Human metabolism. Several examples will be presented illustrating the integration of the diagnostic approaches for different disease groups.info:eu-repo/semantics ...
Rocha, H.
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

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Smartphone applications for early screening of retinoblastoma: a scoping review

BMC Ophthalmology
Introduction Retinoblastoma is the most common intraocular malignancy in childhood, typically presenting before five years of age. Early detection is essential in improving survival and visual outcomes.
Kartiekasari Syahidda Mohammad Zubairi, Ernie Zuraida Ali, Julaina Abdul Jalil, Chan Li Yen, Sangeetha Tharmathurai, Jamalia Rahmat, Mohd Khairul Nizam Mohd Khalid   +6 more
doaj   +1 more source

Newborn screening for inborn errors of metabolism: a systematic review.

, 1997
: OBJECTIVES. To establish a database of literature and other evidence on neonatal screening programmes and technologies for inborn errors of metabolism.
Thomason, Littlejohns, Lord, Addison, Cockburn, Chalmers, Bain, Seymour, Wilcox   +8 more
core   +1 more source