Results 61 to 70 of about 5,075,107 (157)
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
The Impact of El Niño on Northeastern Forests: A Case Study on Maple Syrup Production [PDF]
El Niño events are likely to affect maple syrup production since it is very sensitive to weather events. A statistically significant direct correlation has not been found in our preliminary analysis, however. This may be because many other factors affect
Sedjo, Roger, Bergeron, Nancy
core
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
IMPACT OF THE 1998 ICE STORM ON THE EASTERN ONTARIO MAPLE SYRUP INDUSTRY: A CASE STUDY OF NATURAL DISASTER POLICY IN CANADA [PDF]
Under Canada's Disaster Financial Assistance Arrangements (DFAA), the federal government can provide provinces with funds for emergency response and recovery in the event of a natural disaster.
Kidon, Jennifer, Fox, Glenn
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RNA‐Based Therapies for Inherited Metabolic Disorders
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri +5 more
wiley +1 more source
The Molecular Basis of Maple Syrup Urine Disease [PDF]
Maple syrup urine disease (MSUD) is a rare metabolic disorder that is caused by mutations in the branched chain alpha keto acid dehydrogenase enzyme complex (BCKDC).
Jensen, Chloe
core +1 more source
Maple syrup urine disease in Brazil: a panorama of the last two decades
Jornal de Pediatria, 2015 OBJECTIVE: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. METHODS: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of ...
Silvani Herber +8 more
doaj +3 more sources
Case report: maple syrup urine disease with a novel DBT gene mutation
BMC Pediatrics, 2019 Background Maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex.
Wei Feng +3 more
doaj +1 more source
Stem Cell Research, 2019 Maple syrup urine disease type Ib (MSUD Ib) is an autosomal recessive genetic metabolic disease caused by homozygous or compound heterozygous mutation in BCKDHB on chromosome 6q14. We generated an induced pluripotent stem cell (iPSC) line from peripheral
Yue Li +10 more
doaj +1 more source
Gene Preference in Maple Syrup Urine Disease [PDF]
, 2001 Untreated maple syrup urine disease (MSUD) results in mental and physical disabilities and often leads to neonatal death. Newborn-screening programs, coupled with the use of protein-modified diets, have minimized the severity of this phenotype and ...
Nellis, Mary M., Danner, Dean J.
core +1 more source