Results 141 to 150 of about 57,504 (328)

Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening

Scientific Reports, 2019
Inherited metabolic disorders (IMDs) in neonates are a diagnostic and therapeutic challenge for the neonatologist, with the priority being to rapidly flag the treatable diseases.
Alexandra Bower, Apolline Imbard, Jean-François Benoist, Samia Pichard, Odile Rigal, Olivier Baud, Manuel Schiff   +6 more
doaj   +1 more source

Electrokinetic Manipulations Combined With Direct and Ambient Ionization Mass Spectrometry

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Mass spectrometry (MS) is a powerful analytical technique that typically involves sample preparation and online analytical separation before MS detection. Traditional methods often face bottlenecks in sample preparation and analytical separation, despite the rapid detection capabilities of MS.
Nicholas E. Manicke, Lahiru Wedasingha, Magnus Rydberg   +2 more
wiley   +1 more source

Antithrombin: Deficiency, Diversity, and the Future of Diagnostics

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Our healthcare system provides reactive sick‐care, treating patients after symptoms have appeared by prescription of generic and often suboptimal therapy. This strategy brings along high costs and high pressure which is not sustainable.
Mirjam Kruijt, Christa M. Cobbaert, L. Renee Ruhaak   +2 more
wiley   +1 more source

Deep Brain Stimulation in Children and Adolescents with ε‐Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life

Movement Disorders, EarlyView.
Abstract Background Deep brain stimulation of the globus pallidus internus (DBS‐GPi) has shown efficacy in adult patients with SGCE‐related myoclonus dystonia. However, evidence regarding its impact in pediatric populations is limited. Objectives The aim was to evaluate motor and non‐motor outcomes following DBS‐GPi intervention in children and ...
Ainara Salazar‐Villacorta, Ana Cazurro‐Gutiérrez, Lucy Dougherty‐de Miguel, Julia Ferrero‐Turrión, Anna Marcé‐Grau, Marta Folch‐Benito, Álvaro Lucero‐Garófano, Alfons Macaya, Antonio Moreno‐Galdó, Maria I. Vanegas, Marta Correa‐Vela, María Victoria González, Gemma Español‐Martín, Martha Loredo, Ignacio Delgado, Esther Toro‐Tamargo, Margarita Figueroa, Dolores Vilas, Manel Tardáguila, Jorge Muñoz, Lourdes Ispierto, Ramiro Álvarez, Agustí Bescós, Belén Pérez‐Dueñas   +23 more
wiley   +1 more source

Glycine <i>N</i>-Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the <i>GLYAT</i>: A Novel Inborn Error of Metabolism. [PDF]

JIMD Rep
ABSTRACT The enzyme glycine N‐acyltransferase (GLYAT) plays a crucial role in detoxifying both xenobiotic and endogenous compounds that contain a carboxylic acid group, such as benzoic acid. Data on the impact of human GLYAT on the glycine conjugation pathway is limited and difficult to determine.
Nourbakhsh M, Miryounesi M, Tale A, Karimzadeh P, Sadeghi H, Ghasemi MR, Alipour N, Pourbakhtyaran E, Hooman N, Razzaghy-Azar M, Nourbakhsh M, Klaas L, Schulke D, Sass JO.   +13 more
europepmc   +2 more sources

New Developments in Screening for Inborn Errors of Metabolism [PDF]

, 1971
I have briefly outlined the PKU program in the State of Virginia and tried to demonstrate how this screening experience has disclosed the heterogeneity of the disease plus the need for an individualized approach to dietary control.
Mamunes, Peter
core   +1 more source

Not So Rare: Errors of Metabolism during the Neonatal Period

, 2003
During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
core   +1 more source

Identification and functional dissection of maize disease resistance genes

New Plant Protection, EarlyView.
The review summarizes recent research advances in the cloning and functional analysis of maize resistance genes and discusses new approaches that may facilitate these research processes, aiming to provide references for future studies. Abstract Maize (Zea mays L.) serves as a staple food in numerous countries and is also used as a raw material for ...
Hongliang Wu, Ying Ding, Haiyue Yu, Xin Xie, Cyrille Saintenac, Zhiqiang Li, Wende Liu   +6 more
wiley   +1 more source

Effectiveness of Pyridoxal-5'-Phosphate in PNPO Deficiency: A Systematic Review. [PDF]

J Inherit Metab Dis
ABSTRACT Pyridox(am)ine 5′‐phosphate oxidase (PNPO) deficiency is an ultrarare inherited neurometabolic disease, characterized by primarily neonatal‐onset B6‐responsive epileptic encephalopathies. Treatment often requires sustainable access to high‐quality pyridoxal‐5′‐phosphate (PLP, i.e., active vitamin B6), although some patients (also) respond to ...
Stolwijk NN, van Dussen L, Reijnhout ND, Brands MMMG, Jaeger B, Clayton PT, Hollak CEM, Bosch AM.   +7 more
europepmc   +2 more sources

Comparing the Audiological Success of Bone Cement to Standard Ossiculoplasty Techniques: A Systematic Review and Meta‐analysis

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To compare the audiological success and longevity of bone cement to standard ossiculoplasty techniques. Data Sources PubMed, Embase, Cochrane Library, Medline, and the Web of Science were systematically searched for studies from the date of inception to November 8, 2024.
Natasha Dowell, Shayma Begum, Christopher Coulson, Hannah Nieto, Jameel Muzaffar   +4 more
wiley   +1 more source