Works matching DE "PHENYLKETONURIA"
Results: 1023
Demographic Features of Phenylketonuria (PKU) Patients, Sharkia Governorate, Egypt.
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- Zagazig University Medical Journal, 2025, v. 31, p. 214, doi. 10.21608/zumj.2024.282204.3325
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- Article
EVALUATION OF GROWTH IN LONG-TERM FOLLOW-UP IN INDIVIDUALS WITH PHENYLKETONURIA.
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- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2025, v. 88, n. 1, p. 38, doi. 10.26650/IUITFD.1552678
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- Article
Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature.
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- Nutrients, 2025, v. 17, n. 4, p. 678, doi. 10.3390/nu17040678
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- Article
Health-related quality of life of parents of children with phenylketonuria in Tehran Province, Islamic Republic of Iran.
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- Eastern Mediterranean Health Journal, 2020, v. 26, n. 3, p. 331, doi. 10.26719/emhj.19.045
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- Article
PREFRONTAL CORTEX COGNITIVE DEFICITS IN CHILDREN TREATED EARLY AND CONTINUOUSLY FOR PKU.
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- Monographs of the Society for Research in Child Development, 1997, v. 62, n. 4, p. 1, doi. 10.2307/1166208
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- Article
Extracellular Microreactor for the Depletion of Phenylalanine Toward Phenylketonuria Treatment.
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- Advanced Functional Materials, 2015, v. 25, n. 25, p. 3860, doi. 10.1002/adfm.201404180
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- Article
Investigation of the oral status and microorganisms in children with phenylketonuria and type 1 diabetes.
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- Clinical Oral Investigations, 2016, v. 20, n. 4, p. 841, doi. 10.1007/s00784-015-1564-7
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- Article
Irreversible neurological effects of late diagnosis phenylketonuria: A case presentation.
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- International Journal of Medical Biochemistry, 2023, v. 6, n. 2, p. 133, doi. 10.14744/ijmb.2023.54376
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- Article
Evaluation of babies with hyperphenylalaninemia diagnosed in the National Newborn Screening Program in Istanbul in 2019.
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- International Journal of Medical Biochemistry, 2022, v. 5, n. 1, p. 49, doi. 10.14744/ijmb.2021.44127
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- Article
Newborn Metabolic and Endocrine Disease Screening Program: Example of Giresun Province Between 2015 and 2020.
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- Journal of Tepecik Education & Research Hospital / İzmir Tepecik Eğitim ve Araştırma Hastanesi Dergisi, 2023, v. 33, n. 2, p. 258, doi. 10.4274/terh.galenos.2023.39297
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- Article
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.
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- Human Genetics, 2019, v. 138, n. 4, p. 389, doi. 10.1007/s00439-019-01998-7
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- Article
Cognitive function in untreated subjects with mild hyperphenylalaninemia: a systematic review.
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- 2022
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- Publication type:
- journal article
Neuropsychological profile in parents of adult phenylketonuria patients.
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- 2018
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- Publication type:
- journal article
Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments.
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- Frontiers in Psychiatry, 2019, p. 1, doi. 10.3389/fpsyt.2019.00561
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- Article
The use of a low phenylalanine diet in response to the challenging behaviour of a man with untreated phenylketonuria and profound learning disabilities.
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- Journal of Intellectual Disability Research, 1995, v. 39, n. 6, p. 520, doi. 10.1111/j.1365-2788.1995.tb00572.x
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- Article
Neuropsychological effects of subsequent exposure to phenylalanine in adolescents and young adults with early-treated phenylketonuria.
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- Journal of Intellectual Disability Research, 1995, v. 39, n. 5, p. 365, doi. 10.1111/j.1365-2788.1995.tb00540.x
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- Article
The use of a low phenylalanine diet with amino acid supplement in the treatment of behavioural problems in a severely mentally retarded adult female with phenylketonuria.
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- Journal of Intellectual Disability Research, 1992, v. 36, n. 2, p. 183, doi. 10.1111/j.1365-2788.1992.tb00494.x
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- Article
Pharmacokinetics of Sapropterin in Patients with Phenylketonuria.
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- Clinical Pharmacokinetics, 2008, v. 47, n. 12, p. 817, doi. 10.2165/0003088-200847120-00006
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- Article
Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels.
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- Journal of Nutrition & Metabolism, 2018, p. 1, doi. 10.1155/2018/6352919
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- Article
Metabolomic Insights into the Nutritional Status of Adults and Adolescents with Phenylketonuria Consuming a Low-Phenylalanine Diet in Combination with Amino Acid and Glycomacropeptide Medical Foods.
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- Journal of Nutrition & Metabolism, 2017, p. 1, doi. 10.1155/2017/6859820
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- Article
Multiclinic Observations on the Simplified Diet in PKU.
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- 2017
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- Abstract
Amino Acid Medical Foods Provide a High Dietary Acid Load and Increase Urinary Excretion of Renal Net Acid, Calcium, and Magnesium Compared with Glycomacropeptide Medical Foods in Phenylketonuria.
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- Journal of Nutrition & Metabolism, 2017, p. 1, doi. 10.1155/2017/1909101
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- Article
Spatiotemporally consistent global dataset of the GIMMS Normalized Difference Vegetation Index (PKU GIMMS NDVI) from 1982 to 2022.
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- Earth System Science Data, 2023, v. 15, n. 9, p. 4181, doi. 10.5194/essd-15-4181-2023
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- Article
The Resource Mothers Program for Maternal Phenylketonuria.
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- American Journal of Public Health, 1999, v. 89, n. 5, p. 762, doi. 10.2105/AJPH.89.5.762
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- Article
Editorial: Genetic screening and public health.
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- 1997
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- Publication type:
- Editorial
Psychosocial Factors in Maternal Phenylketonuria: Women's Adherence to Medical Recommendations.
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- American Journal of Public Health, 1995, v. 85, n. 12, p. 1636, doi. 10.2105/AJPH.85.12.1636
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- Article
Melanoma cases demonstrate increased carrier frequency of phenylketonuria/hyperphenylalanemia mutations.
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- Pigment Cell & Melanoma Research, 2018, v. 31, n. 4, p. 529, doi. 10.1111/pcmr.12695
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- Article
Mutation Spectrum of the Phenylalanine Hydroxylase Gene in Phenylketonuria Patients in Golestan Province, Iran.
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- Biology Bulletin, 2020, v. 47, n. 6, p. 569, doi. 10.1134/S1062359020060084
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- Article
Phenylketonuria and Temperament in Middle Childhood.
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- Children's Health Care, 1986, v. 14, n. 3, p. 163, doi. 10.1207/s15326888chc1403_7
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- Article
PHENYLKETONURIA IS NOT A RISK FACTOR FOR CHANGES OF INFLAMMATION STATUS AS ASSESSED BY INTERLEUKIN 6 AND INTERLEUKIN 8 CONCENTRATIONS.
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- Acta Scientiarum Polonorum. Technologia Alimentaria, 2016, v. 15, n. 2, p. 221, doi. 10.17306/J.AFS.2016.2.22
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- Article
Psychosocial functioning in children with phenylketonuria: Relationships between quality of life and parenting indicators.
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- Child: Care, Health & Development, 2020, v. 46, n. 1, p. 56, doi. 10.1111/cch.12727
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- Article
Parents like me: biosociality and lay expertise in self-help groups of parents of screen-positive newborns.
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- New Genetics & Society, 2018, v. 37, n. 2, p. 97, doi. 10.1080/14636778.2018.1451315
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- Article
Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).
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- Frontiers in Human Neuroscience, 2013, v. 7, p. 1, doi. 10.3389/fnhum.2013.00858
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- Article
Homocysteine and other vascular risk factors in patients with phenylketonuria on a diet.
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- 2002
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- Publication type:
- journal article
New approach to osteopenia in phenylketonuric patients.
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- 2002
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- journal article
Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency.
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- 2002
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- journal article
Acta Paediatrica 47 years ago.
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- Acta Paediatrica, 2001, v. 90, n. 11, p. 1356, doi. 10.1080/080352501317130489
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- Article
Nutritional factors affecting serum phenylalanine concentration during pregnancy for identical twin mothers with phenylketonuria.
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- 2000
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- journal article
Visual event-related potentials in children with phenylketonuria.
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- 2000
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- Publication type:
- journal article
Bone mineral density in patients with phenylketonuria.
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- Acta Paediatrica, 1999, v. 88, n. 12, p. 1348, doi. 10.1111/j.1651-2227.1999.tb01049.x
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- Article
Newborn feeding and screening for phenylketonuria.
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- Acta Paediatrica, 1999, v. 88, n. 3, p. 347, doi. 10.1111/j.1651-2227.1999.tb01111.x
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- Publication type:
- Article
Bone mineral status in children with phenylketonuria under treatment.
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- 1998
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- Publication type:
- journal article
R252W/E178G phenylalanine hydroxylase genotype in a Romanian non-PKU hyperphenylalaninaemic patient.
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- 1998
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- Case Study
Factors affecting cognitive, motor, behavioral and executive functioning in children with phenylketonuria.
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- 1998
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- Publication type:
- journal article
Early breastfeeding is linked to higher intelligence quotient scores in dietary treated phenylketonuric children.
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- 1996
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- Publication type:
- journal article
Growth and skeletal maturation in children with phenylketonuria.
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- 1994
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- Publication type:
- journal article
FENILKETONURIJA I DRUGE HIPERFENILALANINEMIJE.
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- Pedijatrija Danas: Pediatrics Today, 2005, v. 1, n. 1, p. 11
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- Publication type:
- Article
First experience with a fully automated extraction system for simultaneous on-line direct tandem mass spectrometric analysis of amino acids and (acyl-)carnitines in a newborn screening setting.
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- Rapid Communications in Mass Spectrometry: RCM, 2014, v. 28, n. 8, p. 965, doi. 10.1002/rcm.6856
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- Article
Dental Status and Periodontal Health of Patients with Phenylketonuria in Latvia.
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- Acta Stomatologica Croatica, 2022, v. 56, n. 2, p. 109, doi. 10.15644/asc56/2/2
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- Article
Dysmorphism and the Inborn Errors of Metabolism: The Importance of the Paediatrician.
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- Perinatology: Journal of Perinatal & Neonatal Care, 2008, v. 10, n. 1/2, p. 1
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- Publication type:
- Article