Results 51 to 60 of about 3,357 (148)

Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management

, 2019
Untreated phenylketonuria (PKU) in pregnancy causes a severe embryopathy called maternal PKU syndrome. Here, we aimed to assess management issues and pregnancy outcomes in the first published series of PKU pregnancies from the developing world. Data were
YILDIZ, YILMAZ, SİVRİ, HATİCE SERAP
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Adherence to Treatment of Phenylketonuria

, 2015
Introduction: Phenylketonuria (PKU) is caused by the deficient activity of phenylalanine hydroxylase. Aim: To identify the factors associated with treatment adherence among patients with PKU seen at a southern Brazil reference center.
Tatiéle Nalin, Tatiane Alves Vieira, Bárbara Correa Krug, Ida Vanessa Doederlein Schwartz, Oliveira Netto,Cristina Brinckmann, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Schwartz,Ida Vanessa Doederlein, Nalin,Tatiéle, Vieira,Tatiane Alves, Krug,Bárbara Correa, Bittar,Camila Matzenbacher   +11 more
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Phénylcétonurie maternelle [Maternal phenylketonuria]

, 2001
The child of a phenylketonuric woman is exposed during pregnancy to a high risk of growth retardation and malformation. The frequency of these abnormalities is proportional to the maternal phenylalanine blood concentrations.
Matthieu, J.M., Bianchi, N., Boulat, O.
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Aromatic amino acid requirements in human pregnancy and implications in maternal phenylketonuria management

, 2020
Background: During pregnancy there is an increased dietary requirement for most nutrients to allow for healthy growth and development of both the fetus and mother.
Ennis, Madeleine
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The effect of large neutral amino acids on maternal phenylketonuria offspring

, 2006
Thesis (M.S.)--Wichita State University, Dept. of Biological Sciences."May 2006."Includes bibliographic references (leaves 36-40)Women with untreated phenylketonuria (PKU), tend to give birth to infants with multiple congenital anomalies, as elevated ...
Gowda, Supriya Srinivasa
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Specific characteristics of dynamic monitoring of patients diagnosed with classical phenylketonuria during pregnancy

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
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Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry

Women with phenylketonuria (PKU) should maintain blood phenylalanine (phe) concentration within the recommended range before and during pregnancy to prevent maternal PKU syndrome (MPKUS) in their offspring.
Margite I. Borth, Rani H. Singh, Aileen Kenneson   +2 more
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Mouse models of human phenylketonuria

, 1993
Click on the link to access the article (may not be free).Phenylketonuria (PKU) results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of phenylalanine (PHE) to tyrosine.
Dove, W. F., Shedlovsky, Alexandra, Symula, D., McDonald, J. David   +3 more
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Maternal phenylketonuria : a case report

A fenilcetonúria (“Phenylketonuria” - PKU) é um Erro Inato do Metabolismo (EIM) que leva a uma concentração elevada do aminoácido fenilalanina (“phenylalanine” - Phe) no organismo, isso ocorre por um erro genético de herança autossômica recessiva ...
Darós, Victória Helena
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Maternal phenylketonuria. [PDF]

BMJ, 1970
openaire   +3 more sources