Join | Login







Documents - Executive Function
Results:  11 Documents
Sort By: Title  |  Author
Filter
Page: 1 2 Prev | Next
Starting School or Day Care with HCU (English)
Author(s): CanPKU+;; Colter, Melanie; Mozdzen, Samantha; Chute, Tanya Rating: No Rating   Read Reviews  
  jpg  |  PDF
Starting School with MSUD (English)
Author(s): CanPKU+; Needleman, Susan; Mason,Stacy; Chute, Tanya Rating: No Rating   Read Reviews  
  jpg  |  PDF
Starting School with UCDs (English)
Author(s): CanPKU+; Garstin, Michaela; Chute, Tanya Rating: No Rating   Read Reviews  
  jpg  |  PDF
PKU Starting School (English)
Author(s): CanPKU+; Chute, Tanya Rating: No Rating   Read Reviews  
  PDF  |  jpg
Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria (English)
Author(s): Khan Sophia M., Heister Robyn R, Keathley Justine R. Rating: No Rating   Read Reviews  
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.”
  PDF  |  Link
Understanding the Burden of Classical Homocystinuria (HCU) From the Patient’s Perspective: A Qualitative Study (English)
Author(s): Bartke,Danaé; Pokrzywinski, Robin; Clucas, Claudine; Machuzak,Kathy; Pinto, Lionel; Travere Rating: No Rating   Read Reviews  
Description: Qualitative interviews with adult patients, pediatric patients, and caregivers elicited in-depth descriptions of how patients with HCU are affected and burdened by various aspects of their disease experience
  PDF
Amino Acids in our Rares (English)
Author(s): CanPKU+; Chute, Tanya Rating: No Rating   Read Reviews  
  PDF  |  PNG  |  PNG  |  PDF
Drive to Thrive (English)
Author(s): CanPKU+ Rating: No Rating   Read Reviews  
  PNG  |  jpg  |  jpg  |  PNG  |  PNG  |  PNG
Drive to Thrive (English)
Author(s): CanPCU+ Rating: No Rating   Read Reviews  
  PNG  |  PNG  |  PNG  |  PNG
HCY Facts (English)
Author(s): Texas Dept of State Health Services Rating: No Rating   Read Reviews  
  PDF
Page: 1 2 Prev | Next