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Sleep Disturbances in Phenylketonuria: An Explorative Study in Men and Mice.
- Published in:
- Frontiers in Neurology, 2017, p. 1, doi. 10.3389/fneur.2017.00167
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- Publication type:
- Article
Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands: The Parental Perspective.
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- Nutrients, 2022, v. 14, n. 19, p. 3961, doi. 10.3390/nu14193961
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- Publication type:
- Article
Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?
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- Nutrients, 2022, v. 14, n. 18, p. N.PAG, doi. 10.3390/nu14183874
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- Publication type:
- Article
Aspartame and Phe-Containing Degradation Products in Soft Drinks across Europe.
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- Nutrients, 2020, v. 12, n. 6, p. 1887, doi. 10.3390/nu12061887
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- Publication type:
- Article
The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients.
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- Nutrients, 2019, v. 11, n. 11, p. 2816, doi. 10.3390/nu11112816
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- Publication type:
- Article
Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?
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- Nutrients, 2019, v. 11, n. 11, p. 2572, doi. 10.3390/nu11112572
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- Publication type:
- Article
Blood and Brain Biochemistry and Behaviour in NTBC and Dietary Treated Tyrosinemia Type 1 Mice.
- Published in:
- Nutrients, 2019, v. 11, n. 10, p. 2486, doi. 10.3390/nu11102486
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- Publication type:
- Article
The Benefit of Large Neutral Amino Acid Supplementation to a Liberalized Phenylalanine-Restricted Diet in Adult Phenylketonuria Patients: Evidence from Adult Pah-Enu2 Mice.
- Published in:
- Nutrients, 2019, v. 11, n. 9, p. 2252, doi. 10.3390/nu11092252
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- Publication type:
- Article
Biomarkers of Micronutrients in Regular Follow-Up for Tyrosinemia Type 1 and Phenylketonuria Patients.
- Published in:
- Nutrients, 2019, v. 11, n. 9, p. 2011, doi. 10.3390/nu11092011
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- Publication type:
- Article
A Specific Nutrient Combination Attenuates the Reduced Expression of PSD-95 in the Proximal Dendrites of Hippocampal Cell Body Layers in a Mouse Model of Phenylketonuria.
- Published in:
- Nutrients, 2016, v. 8, n. 4, p. 185, doi. 10.3390/nu8040185
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- Publication type:
- Article
Quantitative multivoxel proton spectroscopy of the brain in developmental delay.
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- Journal of Magnetic Resonance Imaging, 2009, v. 30, n. 4, p. 716, doi. 10.1002/jmri.21909
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- Publication type:
- Article
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4151, doi. 10.1093/hmg/dds123
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- Publication type:
- Article
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
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- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 270, doi. 10.1038/ejhg.2010.204
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- Publication type:
- Article
Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1.
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- Pediatric Drugs, 2019, v. 21, n. 6, p. 413, doi. 10.1007/s40272-019-00364-4
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- Publication type:
- Article
Adult Patients with Well-Controlled Phenylketonuria Tolerate Incidental Additional Intake of Phenylalanine.
- Published in:
- Annals of Nutrition & Metabolism, 2011, v. 58, n. 2, p. 94, doi. 10.1159/000324924
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- Publication type:
- Article
The Use of Prealbumin Concentration as a Biomarker of Nutritional Status in Treated Phenylketonuric Patients.
- Published in:
- Annals of Nutrition & Metabolism, 2010, v. 56, n. 3, p. 207, doi. 10.1159/000276641
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- Publication type:
- Article
Quantitative multivoxel 1H MR spectroscopy of the brain in children with acute liver failure.
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- 2008
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- Publication type:
- journal article
1H MR chemical shift imaging detection of phenylalanine in patients suffering from phenylketonuria (PKU).
- Published in:
- 2004
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- Publication type:
- journal article
A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 66, doi. 10.3390/ijns9040066
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- Publication type:
- Article
Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots.
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- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 3, p. 34, doi. 10.3390/ijns9030034
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- Publication type:
- Article
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.
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- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 17, doi. 10.3390/ijns8010017
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- Publication type:
- Article
The Behavioral Consequence of Phenylketonuria in Mice Depends on the Genetic Background.
- Published in:
- Frontiers in Behavioral Neuroscience, 2016, v. 10, p. 1, doi. 10.3389/fnbeh.2016.00233
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- Publication type:
- Article
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls.
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- 2016
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- Publication type:
- journal article
The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?
- Published in:
- 2016
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- Publication type:
- journal article
Single amino acid supplementation in aminoacidopathies: a systematic review.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-7
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- Publication type:
- Article
Single amino acid supplementation in aminoacidopathies: a systematic review.
- Published in:
- 2014
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- Publication type:
- journal article
Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-133
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Clinical pathways for inborn errors of metabolism: warranted and feasible.
- Published in:
- 2013
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- Publication type:
- letter
Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis.
- Published in:
- 2013
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- Publication type:
- journal article
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
- Published in:
- 2013
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- Publication type:
- journal article
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU‐MOMs sub‐registries
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 636, doi. 10.1002/jimd.12724
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- Publication type:
- Article
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprotocol.net.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1124, doi. 10.1002/jimd.12386
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- Article
The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 209, doi. 10.1002/jimd.12065
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- Publication type:
- Article
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 929, doi. 10.1007/s10545-018-0167-2
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- Publication type:
- Article
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 929, doi. 10.1007/s10545-018-0167-2
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- Publication type:
- Article
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 641, doi. 10.1007/s10545-017-0086-7
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- Publication type:
- Article
Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients.
- Published in:
- 2016
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- Publication type:
- journal article
Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.
- Published in:
- 2016
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- Publication type:
- journal article
Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation.
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- 2007
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- Publication type:
- journal article
Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease.
- Published in:
- 2007
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- Publication type:
- journal article
Safe and unsafe duration of fasting for children with MCAD deficiency.
- Published in:
- 2007
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- Publication type:
- journal article
Influence of knowledge of the disease on metabolic control in phenylketonuria.
- Published in:
- 2003
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- Publication type:
- journal article
A different approach to breast-feeding of the infant with phenylketonuria.
- Published in:
- 2003
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- Publication type:
- journal article
End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency: no contra-indication for liver transplantation.
- Published in:
- 2000
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- Publication type:
- journal article
Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes.
- Published in:
- Neonatology (16617800), 2016, v. 109, n. 4, p. 297, doi. 10.1159/000443874
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- Publication type:
- Article
Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1.
- Published in:
- PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0185342
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- Publication type:
- Article
Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 413, doi. 10.1007/s10545-010-9207-2
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- Publication type:
- Article
Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. S413, doi. 10.1007/s10545-010-9207-2
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- Publication type:
- Article