Results 151 to 160 of about 192,271 (214)
Burden and severity of inherited monoamine neurotransmitter rare genetic disorders in India. [PDF]
Hamid R, Gowda VK, Tauro L, Mishra R.
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Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria. [PDF]
Gondrand C +14 more
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Cooperativity in microbial biotechnology: synthetic consortia as emerging metabolic engineering strategy for sustainable bioproduction. [PDF]
Avci FG, Wendisch VF.
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Correction to "Prolonged Release of IL-10 From Enzyme-Mediated Poly-l-(Tyrosine-co-Phenylalanine) Nanocrystals Enhances Stability and Modulates Inflammatory Responses". [PDF]
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Acta Paediatrica, 2002
The aim of this study was to determine whether any relationship exists between the severity of mutation of the phenylalanine hydroxylase (PAH) gene and the plasma concentrations of phenylalanine (Phe) and tyrosine (Tyr) under fasting and semifasting conditions among heterozygotes in a matched case-control study.
E. Verduci +7 more
openaire +4 more sources
The aim of this study was to determine whether any relationship exists between the severity of mutation of the phenylalanine hydroxylase (PAH) gene and the plasma concentrations of phenylalanine (Phe) and tyrosine (Tyr) under fasting and semifasting conditions among heterozygotes in a matched case-control study.
E. Verduci +7 more
openaire +4 more sources
Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia
Journal of Inherited Metabolic Disease, 2000AbstractTyrosinaemia types I and II are caused by enzyme deficiencies in the tyrosine catabolism pathway. Successful treatment is possible with the novel enzyme inhibitor NTBC in tyrosinaemia type I and with dietary tyrosine and phenylalanine restriction in both conditions.
C J, Wilson +3 more
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Molecular Genetics and Metabolism, 2007
BH(4) administration results in the reduction of blood phenylalanine level in patients with tetrahydrobiopterin (BH(4))-responsive phenylalanine hydroxylase (PAH) deficiency. The mechanism underlying BH(4) response remains unknown. Here, we studied the effects of BH(4) and phenylalanine on in vivo PAH activity of normal controls using the phenylalanine
Yoshiyuki, Okano +6 more
openaire +2 more sources
BH(4) administration results in the reduction of blood phenylalanine level in patients with tetrahydrobiopterin (BH(4))-responsive phenylalanine hydroxylase (PAH) deficiency. The mechanism underlying BH(4) response remains unknown. Here, we studied the effects of BH(4) and phenylalanine on in vivo PAH activity of normal controls using the phenylalanine
Yoshiyuki, Okano +6 more
openaire +2 more sources

