Results 91 to 100 of about 26,955 (257)

Hepatocyte Transplantation Using the Domino Concept in a Child with Tetrabiopterin Nonresponsive Phenylketonuria

Cell Transplantation, 2012
Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden.
X. Stéphenne, F. G. Debray, F. Smets, N. Jazouli, G. Sana, T. Tondreau, R. Menten, P. Goffette, F. Boemer, R. Schoos, S. W. Gersting, M. Najimi, A. C. Muntau, P. Goyens, E. M. Sokal M.D., Ph.D.   +14 more
doaj   +1 more source

An Improved Test for Phenylketonuria [PDF]

, 1959
Chauncey O. Rupe, Alfred H. Free
openalex   +1 more source

A New Phe-Free Protein Substitute Engineered to Allow a Physiological Absorption of Free Amino Acids for Phenylketonuria:

, 2018
An innovative technology (Physiomimic Technology) has been applied to amino acids (AAs) formulated for patients with phenylketonuria, with the objective of masking AA taste and odor and prolonging ...
Nadia Giarratana, G. Gallina, V. Panzeri, Alessandra Frangi, A. Canobbio, G. Reiner   +5 more
semanticscholar   +1 more source

Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria

PLoS ONE, 2017
Phenylketonuria (PKU) is a genetic metabolic disease in which the decrease or loss of phenylalanine hydroxylase (PAH) activity results in elevated, neurotoxic levels of phenylalanine (Phe).
S. Bell, D. Wendt, Yanhong Zhang, T. W. Taylor, Shinong Long, L. Tsuruda, Bin Zhao, Phillip Laipis, P. Fitzpatrick   +8 more
semanticscholar   +1 more source

A CHEMICAL INVESTIGATION OF THE DEFECTS OF MYELINATION IN PHENYLKETONURIA [PDF]

, 1962
L. Crome, V. Tymms, L. I. Woolf
openalex   +1 more source

Specific characteristics of dynamic monitoring of patients diagnosed with classical phenylketonuria during pregnancy

Лечащий Врач
Background. 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
doaj   +1 more source

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria

Annals of Nutrition and Metabolism, 2017
Introduction: In phenylketonuria (PKU), a natural protein-restricted dietary treatment prevents severe cognitive impairment. Nutrient deficiencies may occur due to strict diet. This study is aimed at evaluating the dietary intake and blood concentrations
S. Demirdas, F. V. van Spronsen, C. Hollak, J. H. van der Lee, P. Bisschop, F. Vaz, N. M. Ter Horst, M. Rubio-Gozalbo, A. Bosch   +8 more
semanticscholar   +1 more source

Reproductive experience of women living with phenylketonuria

Molecular Genetics and Metabolism Reports, 2018
Introduction: Many women with PKU are well-informed about the risks of maternal PKU but there are several barriers to achieving satisfactory metabolic control before and during pregnancy.
Suzanne Ford, Mike O'Driscoll, Anita MacDonald   +2 more
doaj  

Dietetic treatment of phenylketonuria: a follow-up study. [PDF]

, 1967
B. E. Clayton, Alan Moncrieff, G. E. Roberts   +2 more
openalex   +1 more source

Phenylketonuria [PDF]

BMJ, 1963
J D, ALLAN, K S, HOLT, F P, HUDSON, J T, IRELAND   +3 more
openaire   +2 more sources