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Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria
(English)
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Author(s): Khan Sophia M., Heister Robyn R, Keathley Justine R.
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Description: Phenylketonuria (PKU) is an autosomal recessive genetic condition that results in reduced enzymatic functioning within the phenylalanine hydroxylase (PAH) pathway, which is involved in the metabolism of phenylalanine (Phe) into tyrosine (Tyr). Without dietary intervention, individuals with PKU exhibit significantly elevated levels of Phe, which is presumed to cause severe neurological dysfunction and other associated health risks. Carriers of PKU are heterozygotes for a PAH gene mutation and are typically described in the literature as “unaffected.” However, decades of existing research challenges this classical thinking and it is plausible that these individuals currently classified as carriers may present with an intermediate phenotype or may be “moderately affected.”
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BC Access to timely Medications
(English)
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Author(s): Best Medicine Coalition
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Description: CanPKU+ is a member of the Best Medicine Coalition (BMC)
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Amino Acids in our Rares
(English)
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Author(s): CanPKU+; Chute, Tanya
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Drive to Thrive
(English)
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Author(s): CanPKU+
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Designing patient-oriented longitudinal disease registries for children with rare metabolic diseases in Canada
(English)
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Author(s): Wyatt A; Adams j; Angel K; Lamoureux; Howie A; Saad A; Butcher NJ; Greenberg C; Hayeems RZ; Inbar-Feigenberg M; Laberge AM; Lacaze-Masmonteil T; McCabe C; Mitchell JJ; Offringa M; Oskoui, Ruth ; Speechley,K; Stockler S , T
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Description: Wyatt A, Adams J, Angel K, Lamoureux M, Howie A, Saad A, Butcher NJ, Greenberg C, Hayeems RZ, Inbar-Feigenberg M, Laberge AM, Lacaze-Masmonteil T, McCabe C, Mitchell JJ, Offringa M, Oskoui M, Ruth C, Speechley K, Stockler S, Thavorn K, Schulze A Trakadis Y Wilson K, Chakraborty P, Potter BK, & on behalf of the INFORM RARE Network
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Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria
(English)
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Author(s): Pugliese, Michael; Tingley, Kylie; Chow, Andrea; Pallone, Nicole; Smith, Maureen; Chakraborty, Pranesh; Geraghty, Michael T.; Irwin, Julie K.; Mitchell, John J.; Stockler, Sylvia; Nicholls, Stuart G.; Offringa, Martin; Rahman, Alvi; et al
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Helping Anxious Students Move Forward
(English)
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Author(s): Minahan, Jessica
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Description: Strategic accommodations can help students with
anxiety develop persistence and independence.
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HCY Facts
(English)
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Author(s): Texas Dept of State Health Services
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