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Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk +39 more
wiley +1 more source

Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles

Iranian Journal of Medical Sciences, 2018
Phenylketonuria (PKU) is one of the most common known inherited metabolic diseases. The present study aimed to investigate the status of molecular defects in phenylalanine hydroxylase (PAH) gene in western Iranian PKU patients (predominantly from ...
Reza Alibakhshi +3 more
doaj

Continuous Molecular Monitoring Using Electrochemical Aptamer‐Based Sensors: Remaining Challenges for Long‐Term In Vivo Deployment

Advanced Science, Volume 13, Issue 58, 19 October 2026.
Continuous molecular monitoring using electrochemical aptamer‐based sensors enables real‐time tracking of dynamic biomarkers with transformative potential for precision medicine. Achieving clinically relevant month‐long stability remains a central challenge due to multiple degradation pathways.
Shibo Liu, Xiangling Li, Wei Ouyang
wiley +1 more source

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