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Cognitive Functioning in Phenylketonuria: A Lifespan Perspective
(Document)
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Author(s): Stephan Huijbregts
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Description: Phenylketonuria (PKU) is a hereditary metabolic disorder characterized by the inability to metabolize phenylalanine, leading to neurotoxic accumulation of phenylalanine and significant cognitive impairment. While extensive research has focused on the cognitive outcomes in middle childhood, adolescence, and early adulthood, there is a notable paucity of studies addressing the cognitive functioning of very young and older PKU patients. This review underscores the necessity for further research in these populations, particularly because of the importance of early cognitive development for later cognitive and behavioral functioning and because of the potential implications of PKU and metabolic control for age-related cognitive decline.
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FAMILY ENGAGEMENT IN RESEARCH: STAYING ON TRACK
(Document)
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Author(s):
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Description: Communicating openly in your research team helps you stay on TRACK. Sometimes, research projects don’t go as planned and it becomes difficult to communicate clearly, meet projected deadlines, or collaborate meaningfully. The TRACK approach helps family and research partners handle these ‘bumps in the road’ together.
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Pediatric Routinely Administered Clinical Therapeutics In Everyday practice Trials
(Document)
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Author(s): Sick Kids Hospital - PRACTIcE
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Description: Regulatory Reform to Advance
Evidence-Based pediatric Care
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Link
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PDF - English
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Phenylketonuria: A guide through the complex maze of its neurological pathophysiology providing a new perspective on treatment strategies
(Document)
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Author(s): Ine Nulmans , Sien Lequeue , Liesbeth Desmet , Gigly G. Del’haye , Nina S. Salvi , Matthias Rombaut , Jessie Neuckermans , Joery De Kock
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Description: Even early treated PKU patients with proper metabolic control, obtained immediately after birth upon diagnosis of the disease, show late-onset neurological complications. Although the disease has already been researched for over 90 years, the complexity of its neurological pathophysiology has only recently been unraveled. Where it was initially thought that the neurological phenotype could be attributed to the increased Phe and decreased Tyr levels resulting in impaired neurotransmitter synthesis, it is now hypothesized that other processes including alterations in protein synthesis, oxidative stress, changes in bioenergetics and white matter disturbances play an important role in the development of these neurological manifestations. In this review, we aim to guide you through the complex maze of the brain pathophysiology observed in PKU while providing a new perspective on future treatment strategies in order to completely overcome symptom onset.
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The PKU Patient Registry: Development of a patient-driven registry and initial outcomes
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Author(s): Lauren Youngborg, Christine S. Brown, Eileen M. Blakely, Olaf Bodamer, Rhonda Connolly, Kathryn D. Moseley, Elaina Jurecki, Kelsey McQueen, Susan A. Berry
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Description: Keywords:
Phenylketonuria
PKU
Phenylalanine
Patient registry
Natural history
Rare disease registry
Patient-reported outcomes
Inborn error of metabolism
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Ensuring the sovereignty and security of Canadian health data
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Author(s): Michael Geist, Mari Teitelbaum and Kumanan Wilson CMAJ
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Description: DOI: https://doi.org/10.1503/cmaj.250488
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PKU and sepiapterin data with Suzanne Hollander, MS, RD, LDN
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Author(s): https://www.contemporarypediatrics.com/
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CAPTURING THE FULL PICTURE - UNMET MEDICAL NEED IN PHENYLKETONURIA (PKU)
(Document)
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Author(s): ESPKU, PTC Therapeutics
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Carrier Study
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Author(s): Dr. Justine Keathley
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Description: Are you a Family Member of Someone with PKU? Help to Advance Research! ??
Researchers at the University of Guelph want to better understand if there are potential health and cognitive impacts of phenylalanine consumption (found in high-protein foods/beverages and aspartame) in PKU carriers.
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YouTube
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Trial Info Sheet
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Alltrna presents preclinical data demonstration proof of concept for first trna development candidate
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Author(s): Alltrna Press Release on prnewswire
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