Phenylketonuria
Mostrando 1-12 de 126 artigos, teses e dissertações.
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1. Advanced MR imaging features of uncontrolled phenylketonuria in an adult patient
Arquivos de Neuro-Psiquiatria. Publicado em: 2023
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2. Overweight/obesity in adolescents with phenylketonuria: protective and predisposing factors
Abstract Objective: To estimate the prevalence and factors associated with overweight/obesity development in adolescents with early diagnosed phenylketonuria treated exclusively by diet. Methodology: In this cross-sectional study anthropometric measurements, serum phenylalanine levels, and 10 metabolites associated with lipid and carbohydrate metabolism we
Jornal de Pediatria. Publicado em: 2022
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3. Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients
Abstract Phenylketonuria (PKU, OMIM 261600) is predominantly caused by mutations in the PAH gene. One hundred and three Argentine PKU patients were studied by Sanger sequencing; 101 were completely characterized (90.3% were compound heterozygotes). Fifty-four different pathogenic variants were identified. Mutations were distributed all along the PAH gene but
J. inborn errors metab. screen.. Publicado em: 20/12/2019
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4. Rare Diseases in Uruguay: Focus on Infants with Abnormal Newborn Screening
Abstract Introduction: Newborn Screening Program (NBS) in Uruguay includes congenital hypothyroidism (CHT), phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), and Congenital Hearing Loss (CHL). Objetives: This study describe the epidemiological characteristics of newb
J. inborn errors metab. screen.. Publicado em: 15/07/2019
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5. Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals
Abstract Phenylketonuria (PKU) is an inherited metabolic disorder derived from a deficiency in the enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine (Phe) into tyrosine (Tyr). Here we aimed to examine the metabolism of Phe and Tyr in heterozygotes for PKU during fasting and after oral overload of Phe (25 mg/kg). Plasma concentrati
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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6. Adherence to Treatment of Phenylketonuria: A Study in Southern Brazilian Patients
Abstract Introduction: Phenylketonuria (PKU) is caused by the deficient activity of phenylalanine hydroxylase. Aim: To identify the factors associated with treatment adherence among patients with PKU seen at a southern Brazil reference center. Methodology: A cross-sectional, outpatient-based study including 56 patients with PKU (median age, 12 years) for
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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7. Conventional Phenylketonuria Treatment
Abstract Phenylketonuria (PKU) is caused by a deficient activity of enzyme phenylalanine (Phe) hydroxylase, which results in high Phe blood concentration, which is toxic to the central nervous system. The fundamental purpose of nutritional treatment is to reduce and maintain blood Phe between 2 mg/dL (120 µmol/L) and 6 mg/dL (360 µmol/L) in order to preven
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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8. Newborn Screening for Phenylketonuria: Latin American Consensus Guidelines
Abstract Newborn screening (NBS) for phenylketonuria in Latin America gave its first step in an organized way 3 decades ago when the first national NBS program was implemented in Cuba. From then onward, it experienced a slow but continuous growing, being currently possible to find from countries where no NBS activity is known to several countries with consol
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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9. An Adaptation of the Profile of Mood States for Use in Adults With Phenylketonuria
Abstract Adults with phenylketonuria (PKU) experience disturbances in mood. This study used qualitative and quantitative techniques to adapt the 65-item Profile of Mood States (POMS) for the assessment of key mood domains in adults with PKU. First, cognitive interviews on 58 POMS items (excluding 7 Friendliness domain items) among 15 adults and adolescents (
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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10. Technological Journey From Colorimetric to Tandem Mass Spectrometric Measurements in the Diagnostic Investigation for Phenylketonuria
Abstract Phenylalanine analysis for phenylketonuria (PKU) detection in newborn screening (NBS) was chosen as the model system to describe how advancements in laboratory technology improved laboratory performance. These advancements have made NBS programs better and have improved the health outcomes of the affected newborn through improvements in accurate ear
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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11. Content Validity of the ADHD Rating Scale (ADHD RS-IV) and Adult ADHD Self-Report Scale (ASRS) in Phenylketonuria
Abstract The ADHD Rating Scale (ADHD RS-IV; parent report) and Adult ADHD Self-Rating Scale (ASRS; self-report) are validated instruments for measuring symptoms of attention-deficit/hyperactivity disorder (ADHD). The objectives of this study were to elicit descriptions of phenylketonuria (PKU) symptoms and assess content validity of these instruments in PKU.
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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12. Assessing the Content Validity of the Investigator-Rated ADHD Rating Scale Version IV Instrument Inattention Subscale for Use in Adults With Phenylketonuria
Abstract Content validity of the 18-item Investigator-Rated Attention-Deficit Hyperactivity Disorder (ADHD) Rating Scale IV (I-ADHD RS-IV) with adult prompts was investigated using qualitative interviews of US clinicians who had prior experience rating adults with phenylketonuria (PKU) using the I-ADHD RS-IV. Fourteen qualitative interviews were conducted to
J. inborn errors metab. screen.. Publicado em: 30/05/2019