Results 31 to 40 of about 74,556 (215)
A Report on the Incidence of phenylketonuria [PDF]
Acta Medica Iranica, 1982 To f i nd the. inc idence of Phenylketonuria(PKU) i n Teheran a study was conduc ted i n di ffe rent hospitals of Te heran f or a period of Six Years (1974-1980) by screening 8633 neona t e s wit h Guthrie-test . (4) .
M. Kabiri
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International Journal of Medical Biochemistry, 2022 INTRODUCTION: To evaluate the 2-year follow-up of hyperphenylalaninemia (HPA) patients born in 2019. METHODS: Growth, neuromotor development, and vitamin levels of 61 two-year-old babies followed up with the diagnosis of HPA in 2019 were evaluated ...
Pelin Savli +3 more
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Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia [PDF]
Pediatric Research, 1991 Some cases of primary hyperphenylalaninemia are not caused by the lack of phenylalanine hydroxylase, but by the lack of its cofactor tetrahydrobiopterin. These patients are not clinically responsive to a phenylalanine-restricted diet, but need specific substitution therapy. Thus, it became necessary to examine all newborns screened as positive with the
PONZONE, Alberto +5 more
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Incidence of neonatal hyperphenylalaninemia in Fars province, Southern Iran [PDF]
, 2010 Objective: Phenylalanine hydroxylase or its cofactor, tetrahydrobiopterin (BH4), deficiency causes accumulation of phenylalanine in body fluids and central nervous system.
Amirhakimi, Gholamhossein +3 more
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Journal of Behçet Uz Children's Hospital, 2019 INTRODUCTION: Classical phenylketonuria (PKU) is an inherited disorder of amino acid metabolism disorder. The basis of treatment is a life-long phenylalanine restricted diet.
Engin Köse +7 more
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Tetrahydrobiopterin and inherited hyperphenylalaninemias
The Turkish Journal of Pediatrics, 1996 Tetrahydrobiopterin deficiency, a variant of hyperphenylalaninemia, may be caused by deficiency of one of the following enzymes: guanosine triphosphate cyclohydrolase 1, 6-pyruvoyltetrahydropterin synthase, dihydropteridin reductase and pterin-4a-carbinolamine dehydratase.
Blau N, Thony B, Spada M, Ponzone A
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Executive Functioning of 4 Children With Hyperphenylalaninemia From Childhood to Adolescence
, 2015 Hyperphenylalaninemia is a variant of phenylketonuria, and debate remains as to what, if any, active management of this condition is required to preserve cognitive function and psychological well-being.
Sharman, R +7 more
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PLoS ONE, 2022 Patients with phenylketonuria (PKU), an inborn error of phenylalanine metabolism, require consistent treatment to avoid the brain toxicity caused by hyperphenylalaninemia. The treatment consists of life-long use of a low-phenylalanine diet, which aims at
Miroslaw Bik-Multanowski +2 more
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BMC Medical Genetics, 2017 Background Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tetrahydrobiopterin (BH4 ...
Pongsathorn Chaiyasap +5 more
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Tetrahydrobiopterin deficiencies: Lesson from clinical experience
JIMD Reports, 2021 Objectives The present study describes clinical, biochemical, molecular genetic data, current treatment strategies and follow‐up in nine patients with tetrahydrobiopterin (BH4) deficiency due to various inherited genetic defects.
Ayse Ergul Bozaci +10 more
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