Works matching DE "PHENYLKETONURIA treatment"
Results: 96
Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency: Assessment considerations for nurse practitioners.
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- Journal for Specialists in Pediatric Nursing, 2021, v. 26, n. 1, p. 1, doi. 10.1111/jspn.12312
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- Article
Retrospective, observational data collection of the treatment of phenylketonuria in the UK, and associated clinical and health outcomes.
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- Current Medical Research & Opinion, 2011, v. 27, n. 6, p. 1211, doi. 10.1185/03007995.2011.576237
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- Article
FENILCETONÚRIA: UMA REVISÃO DE LITERATURA.
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- Electronic Journal of Pharmacy / Revista Eletrônica de Farmácia, 2014, v. 11, n. 4, p. 27, doi. 10.5216/ref.v11i4.31258
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- Article
Production of phenylalanine-reduced soymilk for phenylketonuria patients.
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- Quality Assurance & Safety of Crops & Foods, 2023, v. 15, n. 4, p. 179, doi. 10.15586/qas.v15i4.1396
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- Article
The Association of Therapy Adherence and Thyroid Function in Adult Patients with Phenylketonuria.
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- Annals of Nutrition & Metabolism, 2019, v. 75, n. 1, p. 16, doi. 10.1159/000501301
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- Article
Phase II clinical trials of PEG-PAL are initiated for treatment of phenylketonuria.
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- Expert Review of Endocrinology & Metabolism, 2009, v. 4, n. 6, p. 533, doi. 10.1586/EEM.09.53
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- Article
Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 5, p. 941, doi. 10.3390/ijms18050941
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- Article
Whose Odyssey Is It? Family‐Centered Care in the Genomic Era.
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- Hastings Center Report, 2018, v. 48, p. S20, doi. 10.1002/hast.879
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- Article
Outcome at age 4 years in offspring of women with maternal phenylketonuria: the Maternal PKU Collaborative Study.
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- 2000
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- journal article
Clinical and Paraclinical Characteristics of Non-Classic Phenylketonuria.
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- Iranian Journal of Child Neurology, 2021, v. 15, n. 3, p. 131, doi. 10.22037/ijcn.v15i3.30519
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- Article
A Comparison of Risperidone and Buspirone for Treatment of Behavior Disorders in Children with Phenylketonuria.
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- Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 33
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- Article
Terapia nutrițională în fenilcetonurie.
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- Romanian Journal of Medical Practice, 2010, v. 5, n. 3, p. 174
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- Article
Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders.
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- 2017
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- journal article
Lipid profile status and other related factors in patients with Hyperphenylalaninaemia.
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- 2016
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- Publication type:
- journal article
Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0294-x
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- Article
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-103
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- Article
Clinical pathways for inborn errors of metabolism: warranted and feasible.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-37
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- Article
Requirements for a minimum standard of care for phenylketonuria: the patients' perspective.
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- 2013
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- Publication type:
- journal article
A PUBLIC HEALTH PERSPECTIVE ON THE IMPORTANCE OF PLASMA PHENYLALANINE AND TYROSINE DETERMINATION IN RELATION TO NEWBORN SCREENING AND MONITORING OF TREATMENT IN PHENYLKETONURIA.
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- Acta Endocrinologica (1841-0987), 2016, v. 12, n. 3, p. 328, doi. 10.4183/aeb.2016.328
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- Article
The Prevalence and Incidence of Congenital Phenylketonuria in 59 Countries: A Systematic Review.
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- Journal of Pediatrics Review, 2021, v. 9, n. 2, p. 83, doi. 10.32598/jpr.9.2.826.2
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- Article
A study of bone turnover markers in prepubertal children with phenylketonuria.
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- 2004
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- journal article
Successful treatment of phenylketonuria with tetrahydrobiopterin.
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- 2001
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- Publication type:
- Letter
Survey of national guidelines for the treatment of phenylketonuria.
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- European Journal of Pediatrics, 2000, v. 159, n. 14, p. S70, doi. 10.1007/PL00014385
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- Article
Neuropsychological approaches to treatment policy issues in phenylketonuria.
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- European Journal of Pediatrics, 2000, v. 159, n. 14, p. S82, doi. 10.1007/PL00014390
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- Article
Comments on neuropsychological approaches to treatment policy issues in phenylketonuria.
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- European Journal of Pediatrics, 2000, v. 159, n. 14, p. S87, doi. 10.1007/PL00014391
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- Article
Diet and compliance in phenylketonuria.
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- European Journal of Pediatrics, 2000, v. 159, n. 14, p. S136, doi. 10.1007/PL00014375
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- Article
Comments on diet and compliance in phenylketonuria.
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- European Journal of Pediatrics, 2000, v. 159, n. 14, p. S142, doi. 10.1007/PL00014378
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- Article
Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997.
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- 1999
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- Publication type:
- journal article
Phenylketonuria: Current Treatments and Future Developments.
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- Drugs, 2019, v. 79, n. 5, p. 495, doi. 10.1007/s40265-019-01079-z
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- Article
Sapropterin.
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- Drugs, 2009, v. 69, n. 4, p. 461, doi. 10.2165/00003495-200969040-00006
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- Article
Optimized Condition for Enhanced Soluble-Expression of Recombinant Mutant Anabaena Variabilis Phenylalanine Ammonia Lyase.
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- Advanced Pharmaceutical Bulletin, 2014, v. 4, n. 3, p. 261, doi. 10.5681/apb.2014.038
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- Article
Strictest diet avoids subtle detriments of PKU.
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- BioScience, 1995, v. 45, n. 4, p. 244
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- Article
Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria.
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- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0183430
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- Article
Genetically engineered probiotic for the treatment of phenylketonuria (PKU); assessment of a novel treatment in vitro and in the PAH<sup>enu2</sup> mouse model of PKU.
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- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0176286
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- Article
Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria.
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- PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173269
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- Article
Evaluation of Tetrahydrobiopterin Therapy with Large Neutral Amino Acid Supplementation in Phenylketonuria: Effects on Potential Peripheral Biomarkers, Melatonin and Dopamine, for Brain Monoamine Neurotransmitters.
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- PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0160892
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- Article
Behavioural effects of phenylalanine-free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuria.
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- 2005
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- journal article
Adjustment and intelligence among children with phenylketonuria in Sweden.
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- 2001
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- journal article
Retrospective neuropsychological evaluation of 18 Romanian subjects with hyperphenylalaninaemia.
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- 2000
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- Publication type:
- Letter
Quality of Life (QoL) assessment in a cohort of patients with Phenylketonuria.
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- BMC Public Health, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2458-14-1243
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- Article
Cartas al editor.
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- Acta Pediatrica de Mexico, 2013, v. 34, n. 5, p. 315
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- Article
Neuropatología de la fenilcetonuria (PKU).
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- Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 340
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- Article
Evaluación nutricional del paciente con fenilcetonuria (PKU).
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- Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 315
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- Article
Modelo chileno de seguimiento a largo plazo para fenilcetonuria (PKU).
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- Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 301
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- Article
Evaluación bioquímica de la fenilcetonuria (PKU): del diagnóstico al tratamiento.
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- Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 296
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- Article
Aspectos neuropsicológicos en pacientes con fenilcetonuria (PKU).
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- Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 293
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- Article
Fenilcetonuria (PKU) en adultos.
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- Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 290
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- Article
Tamiz neonatal y fenilcetonuria.
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- Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 272
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- Article
Glycomacropeptide in PKU—Does It Live Up to Its Potential?
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- Nutrients, 2022, v. 14, n. 4, p. 807, doi. 10.3390/nu14040807
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- Article
Amino Acid Plasma Profiles from a Prolonged-Release Protein Substitute for Phenylketonuria: A Randomized, Single-Dose, Four-Way Crossover Trial in Healthy Volunteers.
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- Nutrients, 2020, v. 12, n. 6, p. 1653, doi. 10.3390/nu12061653
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- Article