Results 41 to 50 of about 2,974 (143)
Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 561-578, June 2026.ABSTRACT Background Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative.
Frances R. Vereijken +3 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.ABSTRACT Phenylketonuria (PKU) is a rare metabolic disorder causing elevated phenylalanine (PHE) levels requiring lifelong dietary or pharmacological management and regular monitoring. Current PHE monitoring methods, such as tandem mass spectrometry (FIA‐MS/MS), are laboratory and sample transport‐dependent, leading to delays in obtaining results. This
Corentin Gondrand +14 more
wiley +1 more source
CRRT: trattamento della crisi metabolica grave nella maple syrup urine disease
Giornale di Clinica Nefrologia e Dialisi, 2018 non ...
Pasquale Fatuzzo +4 more
doaj +1 more source
Molecular basis of various forms of maple syrup urine disease in Chilean patients
Molecular Genetics & Genomic Medicine, 2021 Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched‐chain α‐keto acid dehydrogenase (BCKD) enzymatic complex.
Diana Ruffato Resende Campanholi +12 more
doaj +1 more source
Sample Preparation and Separation of Lignans by Liquid Chromatography
Journal of Separation Science, Volume 49, Issue 5, May 2026.ABSTRACT Lignans are important phytochemicals found mostly in the resins of coniferous trees, but are also introduced into human diets through foods such as sesame seeds and extra‐virgin olive oil. They are pharmacologically interesting mainly because of their antioxidant activities, and they have also been shown to have cytotoxic and antimicrobial ...
Miikka Paloluoto, Susanne K. Wiedmer
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2015 Acute metabolic decompensation in maple syrup urine disease can occur during intercurrent illness and is a medical emergency. A handful of reports in the medical literature describe the use of peritoneal dialysis and haemodialysis as therapeutic ...
P.S. Atwal, C. Macmurdo, P.C. Grimm
doaj +1 more source
Food Risk Assess Europe, Volume 4, Issue 2, April 2026.Abstract Hereditary Fructose Intolerance (HFI), also known as aldolase B deficiency, is an inherited metabolic disorder caused by the deficiency of that enzyme, which participates in the fructose metabolism in the liver, kidneys and small intestine. Aldolase B deficiency brings about the accumulation of fructose‐1‐phosphate in these organs, which can ...
Araceli Díaz Perales +6 more
wiley +1 more source
Maple syrup urine disease: mechanisms and management
The Application of Clinical Genetics, 2017 Patrick R Blackburn,1,2,* Jennifer M Gass,1,* Filippo Pinto e Vairo,3,4,* Kristen M Farnham,5 Herjot K Atwal,6 Sarah Macklin,5 Eric W Klee,3,4,7,8 Paldeep S Atwal1,5 1Center for Individualized Medicine, 2Department of Health Sciences Research, Mayo ...
Blackburn PR +7 more
doaj
Analysis &Sensing, Volume 6, Issue 2, March 2026.Mass spectrometry–based technologies reveal how amino acids and metabolites assemble into ordered supramolecular structures. By integrating ion mobility, ion spectroscopy, and condensed‐phase methods, these approaches provide structural insight into small‐molecule assemblies and uncover their emerging biological functions and potential roles in disease.
Thanh D. Do
wiley +1 more source