Results 41 to 50 of about 1,983 (198)
Insuficiencia hepática aguda grave. Forma de presentación de la galactosemia en un lactante [PDF]
, 2015 Se realiza la presentación de una lactante con cuadro grave de insuficiencia hepática aguda que sobrevive a esta situación, luego de confirmarse que se trataba de una galactosemia donde se impuso tratamiento específico y de sostén que permitieron que la ...
Arrieta García, Rosaralis +3 more
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Movement Disorders Clinical Practice, Volume 12, Issue 11, Page 1742-1755, November 2025.Abstract Background The digitized Archimedes spiral drawing test (DAST) provides an objective approach for assessing tremor in Parkinson's disease (PD) and essential tremor (ET). Despite its growing adoption in patient care settings and clinical research, the measurement properties of the digitized spiral drawing test beyond tremor are underexplored ...
Stella Wang +4 more
wiley +1 more source
Food Science &Nutrition, Volume 13, Issue 10, October 2025.Graphical Abstract of Factors Affecting the Saccharides Content of Fruits and Vegetables, for Analysis ABSTRACT This paper provides a decadal review of literature describing the analysis of simple saccharides and oligosaccharides in food by ion chromatography pulsed amperometric detection (IC/PAD) and ion chromatography mass spectrometry (IC/MS) as ...
Hans S. A. Yates +6 more
wiley +1 more source
Errores Congénitos del Metabolismo en edad pediátrica [PDF]
, 2013 Los Errores Congénitos del Metabolismo son trastornos poco frecuentes de forma aislada pero en su conjunto suponen un capítulo relevante de la patología pediátrica.
Baña Souto, Ana María
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Two‐Stage Treatment for Adult Large Patent Ductus Venosus
Annals of Gastroenterological Surgery, Volume 9, Issue 5, Page 1104-1108, September 2025.This is the first report of a two‐stage treatment for an adult large PDV involving the first stage surgical angioplasty of the large Arantius' duct and second stage embolization of the formed small Arantius' duct. The two‐stage approach could avoid embolic material migration into the systemic circulation or acute portal hypertension associated with the
Shohei Kudo +4 more
wiley +1 more source
Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids
Clinical and Translational Medicine, Volume 15, Issue 9, September 2025.Urinary organic acid profiles in NICCD show enrichment in energy and amino acid pathways. The random forest model differentiates NICCD from non‐specific metabolic abnormalities, both with elevated 4‐hydroxyphenyllactic acid and 4‐hydroxyphenylpyruvic acid, which may cause misdiagnosis. Model explanation and web application help physicians make clinical
Peiyao Wang +7 more
wiley +1 more source
Food Science &Nutrition, Volume 13, Issue 9, September 2025.Breastfeeding provides various benefits, such as supporting the immune system and promoting brain and physical development. Infant formulas are a viable alternative to support growth when breastfeeding is not feasible. The review emphasizes that both methods are important and calls for personalized feeding guidance based on the mother's health, living ...
Kalmee Pramoda Kariyawasam +3 more
wiley +1 more source
Effectiveness of Pyridoxal‐5′‐Phosphate in PNPO Deficiency: A Systematic Review
Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.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 ...
Nina N. Stolwijk +7 more
wiley +1 more source
Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases
Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung +4 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.ABSTRACT Inherited metabolic disorders (IMD) can disrupt brain development and functioning, leading to cognitive and behavioral abnormalities. This systematic review aims to provide a comprehensive synthesis of the evidence regarding neurocognitive impairments in intoxication IMD due to the accumulation of small molecule disorders and energy‐related ...
Marta Gil‐González +4 more
wiley +1 more source