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Documents - Anxiety
Results:
9 Documents
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HCU - Homocystinuria
MSUD - Maple Syrup Urine Disorder
PKU - Phenylketonuria
TYR - Tyrosinemia Type
UCD - Urea Cycle Disorder
Starting School with MSUD
(English)
Author(s):
CanPKU+; Needleman, Susan; Mason,Stacy; Chute, Tanya
Rating:
No Rating
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Starting School with UCDs
(English)
Author(s):
CanPKU+; Garstin, Michaela; Chute, Tanya
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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.
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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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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
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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
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Amino Acids in our Rares
(English)
Author(s):
CanPKU+; Chute, Tanya
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No Rating
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Drive to Thrive
(English)
Author(s):
CanPKU+
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Drive to Thrive
(English)
Author(s):
CanPCU+
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Helping Anxious Students Move Forward
(English)
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)
Author(s):
Texas Dept of State Health Services
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