FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3044767537> ?p ?o ?g. }

• W3044767537 endingPage "100624" @default.
• W3044767537 startingPage "100624" @default.
• W3044767537 abstract "Accumulation of phenylalanine (Phe) due to deficiency in the enzyme phenylalanine hydroxylase (PAH), responsible for the conversion of Phe into tyrosine leads to Phenylketonuria (PKU), a rare autosomal recessive inborn error of metabolism with a mean prevalence of approximately 1:10,000 to 1:15,000 newborns. Physical, neurocognitive and psychiatric symptoms include neurodevelopmental disorder as intellectual disability and autism spectrum disorder. The most common treatments such as low-Phe diet and supplements may decrease blood Phe concentrations, but neuropsychological, behavioral and social issues still occur in some patients. This study aimed to better understand (i) the Brazilian population's knowledge about newborn screening (NBS), the main diagnostic method for PKU, as well as (ii) the impacts of phenylketonuria in the daily lives of patients and parents. Two surveys in Real World Data format gathering of Brazilian residents by online questionnaires with (i) 1000 parents of children up to 5 years old between March and April 2019; (ii) 228 PKU patients and caregivers in March 2019. The survey was conducted in partnership with Abril Publisher and two Brazilian patient associations: Metabolic Mothers and SAFE Brasil, for families with rare diseases and PKU patients, respectively. The first questionnaire shows that 93% of parents recognize the importance of NBS and 92% report that their children have undergone the test. Still, two out of ten participants did not know what the exam is or what it is for. From the second questionnaire nine out of ten patients had their PKU diagnosis by NBS. Although strict dietary controls for PKU were claimed by 44% of respondents from second questionnaire, 55% assume not following all nutritionist recommendations and 52% did not maintain routinely Phe control levels. In addition, 53% said they had high spending on medical appointments, therapies and purchase of special foods. Despite the lack of understanding, the awareness of NBS importance is present in the studied population. The early diagnosis of most PKU patients in the study corroborates with neonatal screening central role of PKU early detection. The difficulty in adhering to dietary adjustments and the possibility that current and new therapeutic strategies other than diet could be determinant to achieve the recommended Phe levels." @default.
• W3044767537 created "2020-07-29" @default.
• W3044767537 creator A5021923333 @default.
• W3044767537 creator A5066187182 @default.
• W3044767537 creator A5078435186 @default.
• W3044767537 creator A5079080628 @default.
• W3044767537 date "2020-09-01" @default.
• W3044767537 modified "2023-10-03" @default.
• W3044767537 title "Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers" @default.
• W3044767537 cites W1967359323 @default.
• W3044767537 cites W1978535578 @default.
• W3044767537 cites W1990591430 @default.
• W3044767537 cites W1995375488 @default.
• W3044767537 cites W2024268322 @default.
• W3044767537 cites W2070682452 @default.
• W3044767537 cites W2070770431 @default.
• W3044767537 cites W2075038111 @default.
• W3044767537 cites W2091831451 @default.
• W3044767537 cites W2098425369 @default.
• W3044767537 cites W2168568696 @default.
• W3044767537 cites W2197320027 @default.
• W3044767537 cites W2313030681 @default.
• W3044767537 cites W2473275516 @default.
• W3044767537 cites W2552386173 @default.
• W3044767537 cites W2570496805 @default.
• W3044767537 cites W2572123485 @default.
• W3044767537 cites W2580742043 @default.
• W3044767537 cites W2601570036 @default.
• W3044767537 cites W2761810763 @default.
• W3044767537 cites W2793449864 @default.
• W3044767537 cites W2795291721 @default.
• W3044767537 cites W2801130913 @default.
• W3044767537 cites W2806406190 @default.
• W3044767537 cites W2860292422 @default.
• W3044767537 cites W2891127606 @default.
• W3044767537 cites W2892532239 @default.
• W3044767537 cites W2906771881 @default.
• W3044767537 cites W2922216043 @default.
• W3044767537 cites W2949888206 @default.
• W3044767537 cites W2961215481 @default.
• W3044767537 cites W2995396446 @default.
• W3044767537 cites W3205929370 @default.
• W3044767537 cites W4249791806 @default.
• W3044767537 cites W86572969 @default.
• W3044767537 doi "https://doi.org/10.1016/j.ymgmr.2020.100624" @default.
• W3044767537 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7387838" @default.
• W3044767537 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32742934" @default.
• W3044767537 hasPublicationYear "2020" @default.
• W3044767537 type Work @default.
• W3044767537 sameAs 3044767537 @default.
• W3044767537 citedByCount "7" @default.
• W3044767537 countsByYear W30447675372021 @default.
• W3044767537 countsByYear W30447675372022 @default.
• W3044767537 countsByYear W30447675372023 @default.
• W3044767537 crossrefType "journal-article" @default.
• W3044767537 hasAuthorship W3044767537A5021923333 @default.
• W3044767537 hasAuthorship W3044767537A5066187182 @default.
• W3044767537 hasAuthorship W3044767537A5078435186 @default.
• W3044767537 hasAuthorship W3044767537A5079080628 @default.
• W3044767537 hasBestOaLocation W30447675371 @default.
• W3044767537 hasConcept C118552586 @default.
• W3044767537 hasConcept C126322002 @default.
• W3044767537 hasConcept C169900460 @default.
• W3044767537 hasConcept C172467417 @default.
• W3044767537 hasConcept C185592680 @default.
• W3044767537 hasConcept C187212893 @default.
• W3044767537 hasConcept C205778803 @default.
• W3044767537 hasConcept C207009774 @default.
• W3044767537 hasConcept C2776169613 @default.
• W3044767537 hasConcept C2777431362 @default.
• W3044767537 hasConcept C2778538070 @default.
• W3044767537 hasConcept C2779646400 @default.
• W3044767537 hasConcept C2908647359 @default.
• W3044767537 hasConcept C2908963387 @default.
• W3044767537 hasConcept C515207424 @default.
• W3044767537 hasConcept C551499885 @default.
• W3044767537 hasConcept C55493867 @default.
• W3044767537 hasConcept C71924100 @default.
• W3044767537 hasConcept C99454951 @default.
• W3044767537 hasConceptScore W3044767537C118552586 @default.
• W3044767537 hasConceptScore W3044767537C126322002 @default.
• W3044767537 hasConceptScore W3044767537C169900460 @default.
• W3044767537 hasConceptScore W3044767537C172467417 @default.
• W3044767537 hasConceptScore W3044767537C185592680 @default.
• W3044767537 hasConceptScore W3044767537C187212893 @default.
• W3044767537 hasConceptScore W3044767537C205778803 @default.
• W3044767537 hasConceptScore W3044767537C207009774 @default.
• W3044767537 hasConceptScore W3044767537C2776169613 @default.
• W3044767537 hasConceptScore W3044767537C2777431362 @default.
• W3044767537 hasConceptScore W3044767537C2778538070 @default.
• W3044767537 hasConceptScore W3044767537C2779646400 @default.
• W3044767537 hasConceptScore W3044767537C2908647359 @default.
• W3044767537 hasConceptScore W3044767537C2908963387 @default.
• W3044767537 hasConceptScore W3044767537C515207424 @default.
• W3044767537 hasConceptScore W3044767537C551499885 @default.
• W3044767537 hasConceptScore W3044767537C55493867 @default.
• W3044767537 hasConceptScore W3044767537C71924100 @default.
• W3044767537 hasConceptScore W3044767537C99454951 @default.

• next