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Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels

scientific article published on 28 November 2019

Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency

scientific article published on 24 May 2017

Antipsychotic medication in adolescents suffering from schizophrenia: a meta-analysis of randomized controlled trials

artículo científico publicado el 1 de enero de 2010

Can untreated PKU patients escape from intellectual disability? A systematic review

artículo científico publicado en 2018

Clinical and Biochemical Features in a Patient With Gene Alteration

article

Clinical characterization of tremor in patients with phenylketonuria

scientific article published on 03 June 2019

Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples

artículo científico publicado en 2020

Erythrocyte-mediated delivery of recombinant enzymes.

artículo científico publicado en 2016

Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria

scientific article published on 09 March 2020

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients

artículo científico publicado en 2020

Metabolic epilepsy: an update

artículo científico publicado en 2012

Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness

artículo científico publicado en 2020

Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male

artículo científico publicado en 2020

Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study

artículo científico publicado en 2015

Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism

artículo científico publicado en 2018

Paradoxical sleep deprivation in rats causes a selective reduction in the expression of type-2 metabotropic glutamate receptors in the hippocampus.

artículo científico publicado en 2016

Parkinsonism in children: Clinical classification and etiological spectrum

artículo científico publicado en 2020

Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant

scientific article published on 21 November 2019

Predictability and inconsistencies in the cognitive outcome of early treated PKU patients

artículo científico publicado en 2017

Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines

scientific article published on 04 September 2019

Psychiatric disorders in adolescent and young adult patients with phenylketonuria

artículo científico publicado en 2015

Targeting mGlu5 Metabotropic Glutamate Receptors in the Treatment of Cognitive Dysfunction in a Mouse Model of Phenylketonuria.

artículo científico publicado en 2018

The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term study

artículo científico publicado en 2015

Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features

scientific article published on 04 February 2020

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

artículo científico publicado en 2019

[Obstetric complications and early-onset schizophrenia: a case-control study]

scientific article published on 01 March 2009

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