Cognitive and behavioral impairment in mild hyperphenylalaninemia
The Turkish Journal of Pediatrics, 2018 As elevated phenylalanine (Phe) is detrimental to brain functions, determining a safe upper limit of blood Phe is important for initiation of treatment plans and setting Phe targets in hyperphenlalaninemic patients.
S Gülin Evinç +10 more
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Egyptian Liver JournalTetrahydrobiopterin deficiency in newborns with atypical hyperphenylalaninemia requires rapid and accurate diagnosis and the ability to distinguish it from the classical type to prevent early irreversible neurological damage.
Nadia Salama +5 more
doaj +1 more source
Blood phenylalanine instability strongly correlates with anxiety in phenylketonuria [PDF]
, 2018 We assessed the relationship between anxiety and long-term metabolic control in adolescents with phenylketonuria (PKU). We used a standardized psychological test to measure anxiety level and analyzed lifelong blood phenylalanine stability in a selected ...
Bik-Multanowski, Mirosław +1 more
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Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo [PDF]
, 2017 The recent approval of sapropterin dihydrochloride, the synthetic form of 6[R]-l-erythro-5,6,7,8-tetrahydrobiopterin (BH4), for the treatment of phenylketonuria (PKU) as the first pharmacological chaperone drug initiated a paradigm change in the ...
Danecka, Marta K. +12 more
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The cardiovascular phenotype of adult patients with phenylketonuria [PDF]
, 2019 BACKGROUND: Patients with Phenylketonuria (PKU) are exposed to multiple cardiovascular risk factors, but the clinical significance of these abnormalities is yet unknown.
Azabdaftari, Aline +5 more
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The Turkish Journal of Pediatrics, 2012 In many countries, neonatal screening programs have been unable to expand and have been limited to a few diseases. We highlight herein the opportunity available for the early detection of some inborn errors of metabolism (IEMs) in those countries ...
Ozlem Unal +5 more
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Assessing the Phenylketonuria Screening Program in Newborns, Iran 2015-2016 [PDF]
, 2018 Phenylketonuria is one of the most important congenital disorders and an autosomal recessive metabolic disease that can cause irreversible brain damages, mental retardation, and cognitive disorders if left untreated.
Ganji, Foruzan +4 more
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Лечащий ВрачBackground. The main therapy for phenylketonuria is a specialised diet with restriction of natural protein, respectively phenylalanine with the prescription of specialised therapeutic foods based on amino acids without phenylalanine.
E. A. Shestopalova
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Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages [PDF]
, 2017 Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blistering, erosions, and chronic ulcers. COL7A1, encoding type VII collagen, has been identified as the candidate gene for dystrophic epidermolysis bullosa. In
Abiri, Maryam +11 more
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Elevated plasma phenylalanine in severe malaria and implications for pathophysiology of neurological complications. [PDF]
, 2006 Journal ArticleCerebral malaria is associated with decreased production of nitric oxide and decreased levels of its precursor, l-arginine. Abnormal amino acid metabolism may thus be an important factor in malaria pathogenesis.
Anstey, Nicholas M., Lopansri, Bert
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